omim.txt

Ensembl_gene_id	Omim_gene_description
ENSG00000000419	Congenital disorder of glycosylation, type Ie, 608799 (3), Autosomal recessive
ENSG00000000971	Basal laminar drusen, 126700 (3), Autosomal dominant; Complement factor H deficiency, 609814 (3), Autosomal recessive, Autosomal dominant; {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3), Autosomal recessive, Autosomal dominant; {Macular degeneration, age-related, 4}, 610698 (3)
ENSG00000001084	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3), Autosomal recessive; {Myocardial infarction, susceptibility to}, 608446 (3)
ENSG00000001497	Wilson-Turner syndrome, 309585 (3), X-linked recessive
ENSG00000001626	{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3), Autosomal dominant; Congenital bilateral absence of vas deferens, 277180 (3), Autosomal recessive; Cystic fibrosis, 219700 (3), Autosomal recessive; {Hypertrypsinemia, neonatal} (3); {Pancreatitis, hereditary}, 167800 (3), Autosomal dominant; Sweat chloride elevation without CF (3)
ENSG00000001631	Cavernous malformations of CNS and retina, 116860 (3), Autosomal dominant; Cerebral cavernous malformations-1, 116860 (3), Autosomal dominant; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3), Autosomal dominant
ENSG00000002822	Lymphoma, somatic (3); Prostate cancer, somatic, 176807 (3)
ENSG00000003137	Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 (3)
ENSG00000003393	Amyotrophic lateral sclerosis 2, juvenile, 205100 (3), Autosomal recessive; Primary lateral sclerosis, juvenile, 606353 (3), Autosomal recessive; Spastic paralysis, infantile onset ascending, 607225 (3), Autosomal recessive
ENSG00000003400	Autoimmune lymphoproliferative syndrome, type II, 603909 (3), Autosomal dominant; Gastric cancer, somatic, 613659 (3); Lymphoma, non-Hodgkin, somatic, 605027 (3)
ENSG00000004455	Reticular dysgenesis, 267500 (3), Autosomal recessive
ENSG00000004487	Cleft palate, psychomotor retardation, and distinctive facial features, 616728 (3), Autosomal dominant
ENSG00000004838	Ciliary dyskinesia, primary, 22, 615444 (3), Autosomal recessive
ENSG00000004848	Epileptic encephalopathy, early infantile, 1, 308350 (3), X-linked recessive; Hydranencephaly with abnormal genitalia, 300215 (3), X-linked; Lissencephaly, X-linked 2, 300215 (3), X-linked; Mental retardation, X-linked 29 and others, 300419 (3), X-linked recessive; Partington syndrome, 309510 (3), X-linked recessive; Proud syndrome, 300004 (3), X-linked
ENSG00000004864	Citrullinemia, adult-onset type II, 603471 (3), Autosomal recessive; Citrullinemia, type II, neonatal-onset, 605814 (3), Autosomal recessive
ENSG00000004939	[Blood group, Diego], 110500 (3); [Blood group, Froese], 601551 (3); [Blood group, Swann], 601550 (3); [Blood group, Waldner], 112010 (3); [Blood group, Wright], 112050 (3); Cryohydrocytosis, 185020 (3), Autosomal dominant; [Malaria, resistance to], 611162 (3); Ovalocytosis, SA type, 166900 (3), Autosomal dominant; Renal tubular acidosis, distal, AD, 179800 (3), Autosomal dominant; Renal tubular acidosis, distal, AR, 611590 (3), Autosomal recessive; Spherocytosis, type 4, 612653 (3), Autosomal dominant
ENSG00000004948	{Osteoporosis, postmenopausal, susceptibility}, 166710 (3), Autosomal dominant
ENSG00000004961	Linear skin defects with multiple congenital anomalies 1, 309801 (3), X-linked dominant
ENSG00000005073	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 (3), Autosomal dominant
ENSG00000005102	Klippel-Feil syndrome 2, 214300 (3), Autosomal recessive
ENSG00000005339	Rubinstein-Taybi syndrome 1, 180849 (3), Autosomal dominant
ENSG00000005381	{Alzheimer disease, susceptibility to}, 104300 (3), Autosomal dominant; {Lung cancer, protection against, in smokers} (3); Myeloperoxidase deficiency, 254600 (3), Autosomal recessive
ENSG00000005421	{Coronary artery disease, susceptibility to} (3); {Coronary artery spasm 2, susceptibility to (3); {Microvascular complications of diabetes 5}, 612633 (3); {Organophosphate poisoning, sensitivity to} (3)
ENSG00000005471	Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3), Autosomal recessive, Autosomal dominant; Cholestasis, progressive familial intrahepatic 3, 602347 (3), Autosomal recessive; Gallbladder disease 1, 600803 (3), Autosomal recessive, Autosomal dominant
ENSG00000005884	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3), Autosomal recessive
ENSG00000005893	Danon disease, 300257 (3), X-linked dominant
ENSG00000005961	Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3), Autosomal dominant; Glanzmann thrombasthenia, 273800 (3), Autosomal recessive; Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
ENSG00000006016	Cold-induced sweating syndrome 1, 272430 (3), Autosomal recessive
ENSG00000006042	Nanophthalmos 4, 615972 (3), Autosomal dominant
ENSG00000006071	Diabetes mellitus, noninsulin-dependent, 125853 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal, 606176 (3), Autosomal recessive, Autosomal dominant; Diabetes mellitus, transient neonatal 2, 610374 (3); Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3), Autosomal recessive, Autosomal dominant; Hypoglycemia of infancy, leucine-sensitive, 240800 (3), Autosomal dominant
ENSG00000006283	Spinocerebellar ataxia 42, 616795 (3), Autosomal dominant; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3), Autosomal dominant
ENSG00000006530	Cataract 38, autosomal recessive, 614691 (3), Autosomal recessive; Sengers syndrome, 212350 (3), Autosomal recessive
ENSG00000006611	Deafness, autosomal recessive 18A, 602092 (3), Autosomal recessive; Usher syndrome, type 1C, 276904 (3), Autosomal recessive
ENSG00000006638	{Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3), Autosomal dominant
ENSG00000006695	Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial
ENSG00000006744	Combined oxidative phosphorylation deficiency 17, 615440 (3), Autosomal recessive; {Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3)
ENSG00000007062	Cone-rod dystrophy 12, 612657 (3); Macular dystrophy, retinal, 2, 608051 (3), Autosomal dominant; Retinitis pigmentosa 41, 612095 (3), Autosomal recessive; Stargardt disease 4, 603786 (3)
ENSG00000007168	Lissencephaly 1, 607432 (3), Isolated cases; Subcortical laminar heterotopia, 607432 (3), Isolated cases
ENSG00000007171	{Hypertension, susceptibility to}, 145500 (2), Multifactorial; {Malaria, resistance to}, 611162 (3)
ENSG00000007312	Agammaglobulinemia 6, 612692 (3), Autosomal recessive
ENSG00000007314	Hyperkalemic periodic paralysis, type 2, 170500 (3), Autosomal dominant; Hypokalemic periodic paralysis, type 2, 613345 (3), Autosomal dominant; Myasthenic syndrome, congenital, 16, 614198 (3), Autosomal recessive; Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3), Autosomal dominant; Paramyotonia congenita, 168300 (3), Autosomal dominant
ENSG00000007372	Aniridia, 106210 (3), Autosomal dominant; Anterior segment dysgenesis 5, multiple subtypes, 604229 (3); Cataract with late-onset corneal dystrophy, 106210 (3), Autosomal dominant; ?Coloboma of optic nerve, 120430 (3), Autosomal dominant; ?Coloboma, ocular, 120200 (3), Autosomal dominant; Foveal hypoplasia 1, 136520 (3), Autosomal dominant; Keratitis, 148190 (3), Autosomal dominant; ?Morning glory disc anomaly, 120430 (3), Autosomal dominant; Optic nerve hypoplasia, 165550 (3), Autosomal dominant
ENSG00000007933	Trimethylaminuria, 602079 (3), Autosomal recessive
ENSG00000008056	Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3), X-linked recessive, X-linked dominant
ENSG00000008086	Epileptic encephalopathy, early infantile, 2, 300672 (3), X-linked dominant
ENSG00000008196	Char syndrome, 169100 (3), Autosomal dominant; Patent ductus arteriosus 2, 617035 (3), Autosomal dominant
ENSG00000008277	?Epileptic encephalopathy, early infantile, 61, 617933 (3), Autosomal recessive
ENSG00000008311	Hyperlysinemia, 238700 (3), Autosomal recessive; Saccharopinuria, 268700 (1), Autosomal recessive
ENSG00000008405	{Delayed sleep phase disorder, susceptibility to}, 614163 (3), Autosomal dominant
ENSG00000008441	Marshall-Smith syndrome, 602535 (3), Autosomal dominant; Sotos syndrome 2, 614753 (3), Autosomal dominant
ENSG00000008710	Polycystic kidney disease 1, 173900 (3), Autosomal dominant
ENSG00000008853	Epileptic encephalopathy, early infantile, 64, 618004 (3), Autosomal dominant
ENSG00000009709	Rhabdomyosarcoma 2, alveolar, 268220 (3), Autosomal recessive
ENSG00000009724	MASP2 deficiency, 613791 (3), Autosomal recessive
ENSG00000009765	Thyroid dyshormonogenesis 4, 274800 (3), Autosomal recessive
ENSG00000009830	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3), Autosomal recessive
ENSG00000010072	Ruijs-Aalfs syndrome, 616200 (3), Autosomal recessive
ENSG00000010165	?{Deafness, autosomal recessive 26, modifier of}, 605429 (3), Autosomal dominant
ENSG00000010292	?Microcephaly 21, primary, autosomal recessive, 617983 (3), Autosomal recessive
ENSG00000010361	Neural tube defects, 182940 (3), Autosomal dominant
ENSG00000010404	Mucopolysaccharidosis II, 309900 (3), X-linked recessive
ENSG00000010610	OKT4 epitope deficiency, 613949 (3)
ENSG00000010671	Agammaglobulinemia and isolated hormone deficiency, 307200 (3), X-linked recessive; Agammaglobulinemia, X-linked 1, 300755 (3), X-linked recessive
ENSG00000010704	{Alzheimer disease, susceptibility to}, 104300 (3), Autosomal dominant; Hemochromatosis, 235200 (3), Autosomal recessive; {Microvascular complications of diabetes 7}, 612635 (3); {Porphyria cutanea tarda, susceptibility to}, 176100 (3), Autosomal recessive, Autosomal dominant; {Porphyria variegata, susceptibility to}, 176200 (3), Autosomal dominant; [Transferrin serum level QTL2], 614193 (3)
ENSG00000010818	Mental retardation, autosomal dominant 43, 616977 (3), Autosomal dominant
ENSG00000011143	Bardet-Biedl syndrome 13, 615990 (3), Autosomal recessive; Joubert syndrome 28, 617121 (3), Autosomal recessive; Meckel syndrome 1, 249000 (3), Autosomal recessive
ENSG00000011198	Chanarin-Dorfman syndrome, 275630 (3), Autosomal recessive
ENSG00000011201	Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3), X-linked recessive
ENSG00000011275	Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3), Autosomal recessive
ENSG00000011295	Mitochondrial complex III deficiency, nuclear type 2, 615157 (3), Autosomal recessive
ENSG00000011376	?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3), Autosomal recessive; Perrault syndrome 4, 615300 (3), Autosomal recessive
ENSG00000011426	Focal segmental glomerulosclerosis 8, 616032 (3), Autosomal dominant
ENSG00000011465	Corneal dystrophy, congenital stromal, 610048 (3), Autosomal dominant
ENSG00000011600	Nasu-Hakola disease, 221770 (3), Autosomal recessive
ENSG00000012048	{Breast-ovarian cancer, familial, 1}, 604370 (3), Autosomal dominant, Multifactorial; Fanconi anemia, complementation group S, 617883 (3), Autosomal recessive; {Pancreatic cancer, susceptibility to, 4}, 614320 (3)
ENSG00000012061	Cerebrooculofacioskeletal syndrome 4, 610758 (3), Autosomal recessive
ENSG00000012174	IFAP syndrome with or without BRESHECK syndrome, 308205 (3), X-linked recessive; Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3), X-linked recessive; ?Olmsted syndrome, X-linked, 300918 (3), X-linked recessive; Osteogenesis imperfecta, type XIX, 301014 (3), X-linked recessive
ENSG00000012232	Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive
ENSG00000012504	Cholestasis, progressive familial intrahepatic, 5, 617049 (3), Autosomal recessive
ENSG00000012660	Spinocerebellar ataxia 38, 615957 (3), Autosomal dominant
ENSG00000012779	{Asthma, diminished response to antileukotriene treatment in}, 600807 (3), Autosomal dominant; {Atherosclerosis, susceptibility to} (3)
ENSG00000013293	Retinitis pigmentosa 68, 615725 (3), Autosomal recessive
ENSG00000013375	Immunodeficiency 23, 615816 (3), Autosomal recessive
ENSG00000013503	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3), Autosomal recessive
ENSG00000013573	Warsaw breakage syndrome, 613398 (3), Autosomal recessive
ENSG00000013619	Hypospadias 2, X-linked, 300758 (3), X-linked recessive
ENSG00000014216	Spastic paraplegia 76, autosomal recessive, 616907 (3), Autosomal recessive
ENSG00000014824	?Birk-Landau-Perez syndrome, 617595 (3), Autosomal recessive
ENSG00000014919	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3), Autosomal recessive; Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3), Autosomal recessive, Mitochondrial
ENSG00000015133	Hydrocephalus, congenital, 1, 236600 (3), Autosomal recessive; ?Spinocerebellar ataxia 40, 616053 (3), Autosomal dominant
ENSG00000015171	Mental retardation, autosomal dominant 30, 616083 (3), Autosomal dominant
ENSG00000015285	Neutropenia, severe congenital, X-linked, 300299 (3), X-linked recessive; Thrombocytopenia, X-linked, 313900 (3), X-linked recessive; Thrombocytopenia, X-linked, intermittent, 313900 (3), X-linked recessive; Wiskott-Aldrich syndrome, 301000 (3), X-linked recessive
ENSG00000015479	Amyotrophic lateral sclerosis 21, 606070 (3), Autosomal dominant
ENSG00000015520	[Ezetimibe, nonresponse to], 617966 (3); [Low density lipoprotein cholesterol level QTL 7], 617966 (3)
ENSG00000015532	{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3), Autosomal recessive; Spondyloocular syndrome, 605822 (3), Autosomal recessive
ENSG00000017260	Hailey-Hailey disease, 169600 (3), Autosomal dominant
ENSG00000017427	Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3), Autosomal recessive
ENSG00000018236	?Myopathy, congenital, Compton-North, 612540 (3), Autosomal recessive
ENSG00000018280	{Buruli ulcer, susceptibility to}, 610446 (3); {Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3)
ENSG00000018510	Rhizomelic chondrodysplasia punctata, type 3, 600121 (3), Autosomal recessive
ENSG00000018610	?Mental retardation, X-linked 107, 301013 (3), X-linked
ENSG00000018625	Alternating hemiplegia of childhood 1, 104290 (3), Autosomal dominant; Migraine, familial basilar, 602481 (3), Autosomal dominant; Migraine, familial hemiplegic, 2, 602481 (3), Autosomal dominant
ENSG00000019186	Hypercalcemia, infantile, 1, 143880 (3), Autosomal recessive
ENSG00000019549	Piebaldism, 172800 (3), Autosomal dominant; Waardenburg syndrome, type 2D, 608890 (3), Autosomal recessive
ENSG00000019991	Deafness, autosomal recessive 39, 608265 (3), Autosomal recessive
ENSG00000020922	Ataxia-telangiectasia-like disorder 1, 604391 (3), Autosomal recessive
ENSG00000021488	Cystinuria, 220100 (3), Autosomal recessive, Autosomal dominant
ENSG00000021574	Spastic paraplegia 4, autosomal dominant, 182601 (3), Autosomal dominant
ENSG00000021826	Carbamoylphosphate synthetase I deficiency, 237300 (3), Autosomal recessive; {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3); {Venoocclusive disease after bone marrow transplantation} (3)
ENSG00000021852	C8 deficiency, type II, 613789 (3), Autosomal recessive
ENSG00000022267	Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3), X-linked recessive; Myopathy, X-linked, with postural muscle atrophy, 300696 (3), X-linked recessive; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 (3), X-linked dominant; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 (3), X-linked; Scapuloperoneal myopathy, X-linked dominant, 300695 (3), X-linked dominant; ?Uruguay faciocardiomusculoskeletal syndrome, 300280 (3), X-linked recessive
ENSG00000022355	{Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3); {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3); Epileptic encephalopathy, early infantile, 19, 615744 (3), Autosomal dominant
ENSG00000023228	Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000023287	Breast cancer, somatic, 114480 (3)
ENSG00000023839	Dubin-Johnson syndrome, 237500 (3), Autosomal recessive
ENSG00000023909	{Myocardial infarction, susceptibility to}, 608446 (3)
ENSG00000025708	Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3), Autosomal recessive
ENSG00000025796	Polycystic liver disease 2, 617004 (3), Autosomal dominant
ENSG00000026025	Cataract 30, pulverulent, 116300 (3), Autosomal dominant
ENSG00000026103	Autoimmune lymphoproliferative syndrome, type IA, 601859 (3), Autosomal dominant; {Autoimmune lymphoproliferative syndrome}, 601859 (3), Autosomal dominant; Squamous cell carcinoma, burn scar-related, somatic (3)
ENSG00000026297	Leukoencephalopathy, cystic, without megalencephaly, 612951 (3), Autosomal recessive
ENSG00000026508	[Blood group, Indian system], 609027 (3)
ENSG00000027001	Combined oxidative phosphorylation deficiency 31, 617228 (3), Autosomal recessive
ENSG00000027075	{Cerebral infarction, susceptibility to}, 601367 (3), Multifactorial
ENSG00000027697	{H. pylori infection, susceptibility to}, 600263 (3); {Hepatitis B virus infection, susceptibility to}, 610424 (3); Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3), Autosomal recessive; Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3), Autosomal dominant; {Tuberculosis infection, protection against}, 607948 (3); {Tuberculosis, susceptibility to}, 607948 (3)
ENSG00000027847	Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3), Autosomal recessive
ENSG00000029534	Spherocytosis, type 1, 182900 (3), Autosomal dominant
ENSG00000029993	?Microphthalmia, syndromic 13, 300915 (3), X-linked
ENSG00000030304	Fetal akinesia deformation sequence, 208150 (3), Autosomal recessive; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3), Autosomal recessive
ENSG00000030582	Aphasia, primary progressive, 607485 (3), Autosomal dominant; Ceroid lipofuscinosis, neuronal, 11, 614706 (3), Autosomal recessive; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3), Autosomal dominant
ENSG00000031081	Adams-Oliver syndrome 1, 100300 (3), Autosomal dominant
ENSG00000031698	?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, 617709 (3), Autosomal recessive
ENSG00000032444	Boucher-Neuhauser syndrome, 215470 (3), Autosomal recessive; ?Laurence-Moon syndrome, 245800 (3), Autosomal recessive; Oliver-McFarlane syndrome, 275400 (3), Autosomal recessive; Spastic paraplegia 39, autosomal recessive, 612020 (3), Autosomal recessive
ENSG00000033011	Congenital disorder of glycosylation, type Ik, 608540 (3), Autosomal recessive
ENSG00000033170	Congenital disorder of glycosylation with defective fucosylation, 618005 (3), Autosomal recessive
ENSG00000034693	Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3), Autosomal recessive; ?Peroxisome biogenesis disorder 10B, 617370 (3), Autosomal recessive
ENSG00000034971	Glaucoma 1A, primary open angle, 137750 (3), Autosomal dominant
ENSG00000035403	Cardiomyopathy, dilated, 1W, 611407 (3); Cardiomyopathy, hypertrophic, 15, 613255 (3), Autosomal dominant
ENSG00000036054	Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive
ENSG00000036257	Pseudohypoaldosteronism, type IIE, 614496 (3), Autosomal dominant
ENSG00000036473	Ornithine transcarbamylase deficiency, 311250 (3), X-linked recessive
ENSG00000036828	{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3); Hyperparathyroidism, neonatal, 239200 (3), Autosomal recessive, Autosomal dominant; Hypocalcemia, autosomal dominant, 601198 (3), Autosomal dominant; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3), Autosomal dominant; Hypocalciuric hypercalcemia, type I, 145980 (3), Autosomal dominant
ENSG00000037280	Hemangioma, capillary infantile, somatic, 602089 (3); Lymphedema, hereditary, IA, 153100 (3), Autosomal dominant
ENSG00000037474	Mental retardation, autosomal recessive 5, 611091 (3), Autosomal recessive
ENSG00000038002	Aspartylglucosaminuria, 208400 (3), Autosomal recessive
ENSG00000038295	Atrial septal defect 6, 613087 (3), Autosomal dominant
ENSG00000038382	Mental retardation, autosomal dominant 44, 617061 (3), Autosomal dominant
ENSG00000038427	Wagner syndrome 1, 143200 (3), Autosomal dominant
ENSG00000038945	Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
ENSG00000039068	Blepharocheilodontic syndrome 1, 119580 (3), Autosomal dominant; {Breast cancer, lobular}, 114480 (3), Autosomal dominant; Endometrial carcinoma, somatic, 608089 (3); Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215 (3), Autosomal dominant; Ovarian carcinoma, somatic, 167000 (3); {Prostate cancer, susceptibility to}, 176807 (3), Autosomal dominant
ENSG00000039139	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
ENSG00000039537	C6 deficiency, 612446 (3); Combined C6/C7 deficiency (3)
ENSG00000039650	Ataxia-oculomotor apraxia 4, 616267 (3), Autosomal recessive; Microcephaly, seizures, and developmental delay, 613402 (3), Autosomal recessive
ENSG00000040531	Cystinosis, atypical nephropathic, 219800 (3), Autosomal recessive; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3), Autosomal recessive; Cystinosis, nephropathic, 219800 (3), Autosomal recessive; Cystinosis, ocular nonnephropathic, 219750 (3), Autosomal recessive
ENSG00000040608	{Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant
ENSG00000041982	Deafness, autosomal dominant 56, 615629 (3), Autosomal dominant
ENSG00000042088	Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3)
ENSG00000042317	Leber congenital amaurosis 3, 604232 (3); Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
ENSG00000042429	Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3), Autosomal recessive
ENSG00000042753	Hypocalciuric hypercalcemia, type III, 600740 (3), Autosomal dominant
ENSG00000042781	Retinitis pigmentosa 39, 613809 (3); Usher syndrome, type 2A, 276901 (3), Autosomal recessive
ENSG00000042832	{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3); Thyroid dyshormonogenesis 3, 274700 (3), Autosomal recessive
ENSG00000043355	Holoprosencephaly 5, 609637 (3), Autosomal dominant
ENSG00000043514	Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive
ENSG00000043591	{Congestive heart failure and beta-blocker response, modifier of} (3); [Resting heart rate], 607276 (3)
ENSG00000044090	3-M syndrome 1, 273750 (3), Autosomal recessive
ENSG00000044115	Macular dystrophy, patterned, 2, 608970 (3), Autosomal dominant
ENSG00000044446	Glycogen storage disease, type IXa1, 306000 (3), X-linked recessive; Glycogen storage disease, type IXa2, 306000 (3), X-linked recessive
ENSG00000046604	Arrhythmogenic right ventricular dysplasia 10, 610193 (3), Autosomal dominant; Cardiomyopathy, dilated, 1BB, 612877 (3)
ENSG00000046651	Joubert syndrome 10, 300804 (3), X-linked recessive; Orofaciodigital syndrome I, 311200 (3), X-linked dominant; ?Retinitis pigmentosa 23, 300424 (3), X-linked recessive; Simpson-Golabi-Behmel syndrome, type 2, 300209 (3), X-linked recessive
ENSG00000047457	Cerebellar ataxia, 604290 (3), Autosomal recessive; Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3), Autosomal recessive; [Hypoceruloplasminemia, hereditary], 604290 (3), Autosomal recessive
ENSG00000047578	Joubert syndrome 26, 616784 (3), Autosomal recessive
ENSG00000047579	Hermansky-Pudlak syndrome 7, 614076 (3), Autosomal recessive
ENSG00000047597	McLeod syndrome with or without chronic granulomatous disease, 300842 (3), X-linked
ENSG00000048342	COACH syndrome, 216360 (3), Autosomal recessive; Joubert syndrome 9, 612285 (3), Autosomal recessive; Meckel syndrome 6, 612284 (3), Autosomal recessive
ENSG00000048392	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3), Autosomal dominant
ENSG00000048545	Cone dystrophy-3, 602093 (3), Autosomal dominant; Cone-rod dystrophy 14, 602093 (3), Autosomal dominant
ENSG00000048707	Spinocerebellar ataxia, autosomal recessive 4, 607317 (3), Autosomal recessive
ENSG00000049089	Epiphyseal dysplasia, multiple, 2, 600204 (3), Autosomal dominant; ?Stickler syndrome, type V, 614284 (3), Autosomal recessive
ENSG00000049130	Deafness, autosomal dominant 69, unilateral or asymmetric, 616697 (3), Autosomal dominant; Hyperpigmentation with or without hypopigmentation, 145250 (3), Autosomal dominant; [Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3)
ENSG00000049167	Cockayne syndrome, type A, 216400 (3), Autosomal recessive; UV-sensitive syndrome 2, 614621 (3), Autosomal recessive
ENSG00000049239	Cortisone reductase deficiency 1, 604931 (3), Autosomal recessive
ENSG00000049246	?Advanced sleep phase syndrome, familial, 3, 616882 (3), Autosomal dominant
ENSG00000049540	Cutis laxa, autosomal dominant, 123700 (3), Autosomal dominant; Supravalvar aortic stenosis, 185500 (3), Autosomal dominant
ENSG00000049618	Coffin-Siris syndrome 1, 135900 (3), Autosomal dominant
ENSG00000049759	Periventricular nodular heterotopia 7, 617201 (3), Autosomal dominant
ENSG00000049768	{Diabetes mellitus, type I, susceptibility to}, 222100 (3), Autosomal recessive; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3), X-linked recessive
ENSG00000049860	Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3), Autosomal recessive
ENSG00000050030	Mental retardation, X-linked 98, 300912 (3), X-linked dominant
ENSG00000050405	[Low density lipoprotein cholesterol level QTL 8], 618079 (3)
ENSG00000050555	Cortical malformations, occipital, 614115 (3), Autosomal recessive
ENSG00000051180	{Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant; ?Fanconi anemia, complementation group R, 617244 (3), Autosomal dominant; Mirror movements 2, 614508 (3), Autosomal dominant
ENSG00000051523	Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3), Autosomal recessive
ENSG00000052802	Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 (3), Autosomal recessive
ENSG00000052850	{Craniosynostosis 5, susceptibility to}, 615529 (3), Autosomal dominant; Frontonasal dysplasia 2, 613451 (3), Autosomal recessive; Parietal foramina 2, 609597 (3), Autosomal dominant
ENSG00000053747	Epidermolysis bullosa, generalized atrophic benign, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive; Laryngoonychocutaneous syndrome, 245660 (3), Autosomal recessive
ENSG00000053918	Atrial fibrillation, familial, 3, 607554 (3), Autosomal dominant; Jervell and Lange-Nielsen syndrome, 220400 (3), Autosomal recessive; Long QT syndrome 1, 192500 (3), Autosomal dominant; {Long QT syndrome 1, acquired, susceptibility to}, 192500 (3), Autosomal dominant; Short QT syndrome 2, 609621 (3), Autosomal dominant
ENSG00000054282	Bardet-Biedl syndrome 16, 615993 (3), Autosomal recessive; Senior-Loken syndrome 7, 613615 (3)
ENSG00000054523	?Charcot-Marie-Tooth disease, type 2A1, 118210 (3), Autosomal dominant; {Neuroblastoma, susceptibility to, 1}, 256700 (3), Autosomal dominant, Isolated cases; Pheochromocytoma, 171300 (3), Autosomal dominant
ENSG00000054598	Anterior segment dysgenesis 3, multiple subtypes, 601631 (3), Autosomal dominant; Axenfeld-Rieger syndrome, type 3, 602482 (3), Autosomal dominant
ENSG00000054654	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3), Autosomal dominant
ENSG00000054983	Krabbe disease, 245200 (3), Autosomal recessive
ENSG00000055118	Long QT syndrome 2, 613688 (3), Autosomal dominant; {Long QT syndrome 2, acquired, susceptibility to}, 613688 (3), Autosomal dominant; Short QT syndrome 1, 609620 (3)
ENSG00000055163	Epileptic encephalopathy, early infantile, 65, 618008 (3), Autosomal dominant
ENSG00000055208	Congenital heart defects, nonsyndromic, 2, 614980 (3), Autosomal dominant
ENSG00000055609	Kleefstra syndrome 2, 617768 (3), Autosomal dominant
ENSG00000055955	{Hypercholesterolemia, susceptibility to}, 143890 (3), Autosomal dominant
ENSG00000056972	?Candidiasis, familial, 8, 615527 (3), Autosomal recessive; {Psoriasis susceptibility 13}, 614070 (3)
ENSG00000057294	Arrhythmogenic right ventricular dysplasia 9, 609040 (3), Autosomal dominant
ENSG00000057593	Factor VII deficiency, 227500 (3), Autosomal recessive; {Myocardial infarction, decreased susceptibility to}, 608446 (3)
ENSG00000057663	?Spinocerebellar ataxia, autosomal recessive 25, 617584 (3), Autosomal recessive
ENSG00000058085	Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive
ENSG00000058262	Hyperuricemic nephropathy, familial juvenile, 4, 617056 (3), Autosomal dominant
ENSG00000058404	Mental retardation, autosomal dominant 54, 617799 (3), Autosomal dominant
ENSG00000059377	Ghosal hematodiaphyseal syndrome, 231095 (3), Autosomal recessive; ?Thromboxane synthase deficiency, 614158 (1), Autosomal dominant
ENSG00000059573	Cutis laxa, autosomal dominant 3, 616603 (3), Autosomal dominant; Cutis laxa, autosomal recessive, type IIIA, 219150 (3), Autosomal recessive, Isolated cases; Spastic paraplegia 9A, autosomal dominant, 601162 (3), Autosomal dominant; Spastic paraplegia 9B, autosomal recessive, 616586 (3), Autosomal recessive
ENSG00000060069	Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3), Autosomal recessive
ENSG00000060237	Neuropathy, hereditary sensory and autonomic, type II, 201300 (3), Autosomal recessive; Pseudohypoaldosteronism, type IIC, 614492 (3), Autosomal dominant
ENSG00000060642	Hyperphosphatasia with mental retardation syndrome 1, 239300 (3), Autosomal recessive
ENSG00000060718	Fibrochondrogenesis 1, 228520 (3), Autosomal recessive; {Lumbar disc herniation, susceptibility to}, 603932 (3); Marshall syndrome, 154780 (3), Autosomal dominant; Stickler syndrome, type II, 604841 (3), Autosomal dominant
ENSG00000060762	Mitochondrial pyruvate carrier deficiency, 614741 (3), Autosomal recessive
ENSG00000061337	Esophageal squamous cell carcinoma, 133239 (3), Autosomal dominant
ENSG00000061455	Patent ductus arteriosus 3, 617039 (3), Autosomal dominant
ENSG00000062038	Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3), Autosomal recessive; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3), Autosomal recessive
ENSG00000062598	Vascular malformation, primary intraosseous, 606893 (3), Autosomal recessive
ENSG00000062822	{Colorectal cancer, susceptibility to, 10}, 612591 (3), Autosomal dominant; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3), Autosomal dominant
ENSG00000064012	?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3), Autosomal recessive; {Breast cancer, protection against}, 114480 (3), Autosomal dominant; Hepatocellular carcinoma, somatic, 114550 (3); {Lung cancer, protection against}, 211980 (3), Autosomal recessive
ENSG00000064195	Amelogenesis imperfecta, type IV, 104510 (3), Autosomal dominant; Trichodontoosseous syndrome, 190320 (3), Autosomal dominant
ENSG00000064309	Holoprosencephaly 11, 614226 (3), Autosomal dominant, Isolated cases
ENSG00000064313	Mental retardation, autosomal recessive 40, 615599 (3), Autosomal recessive
ENSG00000064419	Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 (3), Autosomal dominant
ENSG00000064490	MHC class II deficiency, complementation group B, 209920 (3), Autosomal recessive
ENSG00000064601	Galactosialidosis, 256540 (3), Autosomal recessive
ENSG00000064687	{Alzheimer disease 9, susceptibility to}, 608907 (3), Autosomal dominant
ENSG00000064835	Pituitary hormone deficiency, combined, 1, 613038 (3), Autosomal recessive, Autosomal dominant
ENSG00000065000	?Hermansky-Pudlak syndrome 10, 617050 (3), Autosomal recessive
ENSG00000065057	Familial adenomatous polyposis 3, 616415 (3), Autosomal recessive
ENSG00000065135	Auriculocondylar syndrome 1, 602483 (3), Autosomal dominant
ENSG00000065154	Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3), Autosomal recessive
ENSG00000065361	?Lethal congenital contractural syndrome 2, 607598 (3), Autosomal recessive
ENSG00000065427	?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3), Autosomal recessive; Deafness, autosomal recessive 89, 613916 (3), Autosomal recessive
ENSG00000065534	Aortic aneurysm, familial thoracic 7, 613780 (3), Autosomal dominant
ENSG00000065618	Epidermolysis bullosa, junctional, localisata variant, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive; Epithelial recurrent erosion dystrophy, 122400 (3), Autosomal dominant
ENSG00000065883	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 (3), Autosomal dominant
ENSG00000066084	Mental retardation, FRA12A type, 136630 (3), Autosomal dominant
ENSG00000066230	Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive
ENSG00000066279	Microcephaly 5, primary, autosomal recessive, 608716 (3), Autosomal recessive
ENSG00000066427	Machado-Joseph disease, 109150 (3), Autosomal dominant
ENSG00000066468	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3), Autosomal dominant; Apert syndrome, 101200 (3), Autosomal dominant; Beare-Stevenson cutis gyrata syndrome, 123790 (3), Autosomal dominant; Bent bone dysplasia syndrome, 614592 (3), Autosomal dominant; Craniofacial-skeletal-dermatologic dysplasia, 101600 (3), Autosomal dominant; Craniosynostosis, nonspecific (3); Crouzon syndrome, 123500 (3), Autosomal dominant; Gastric cancer, somatic, 613659 (3); Jackson-Weiss syndrome, 123150 (3), Autosomal dominant; LADD syndrome, 149730 (3), Autosomal dominant; Pfeiffer syndrome, 101600 (3), Autosomal dominant; Saethre-Chotzen syndrome, 101400 (3), Autosomal dominant; Scaphocephaly and Axenfeld-Rieger anomaly (3); Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
ENSG00000066629	Band heterotopia, 600348 (3), Autosomal recessive
ENSG00000066827	{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
ENSG00000066923	Premature ovarian failure 8, 615723 (3), Autosomal recessive
ENSG00000066926	Protoporphyria, erythropoietic, 1, 177000 (3), Autosomal recessive
ENSG00000067082	Gastric cancer, somatic, 613659 (3); Prostate cancer, somatic, 176807 (3)
ENSG00000067177	Muscle glycogenosis, 300559 (3), X-linked recessive
ENSG00000067182	{Multiple sclerosis, susceptibility to, 5}, 614810 (3); Periodic fever, familial, 142680 (3), Autosomal dominant
ENSG00000067704	?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 (3), Autosomal recessive
ENSG00000067836	Kohlschutter-Tonz syndrome, 226750 (3), Autosomal recessive
ENSG00000067842	?Spinocerebellar ataxia, X-linked 1, 302500 (3), X-linked recessive
ENSG00000067992	?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 (3), X-linked dominant
ENSG00000068078	Achondroplasia, 100800 (3), Autosomal dominant; Bladder cancer, somatic, 109800 (3); CATSHL syndrome, 610474 (3), Autosomal recessive, Autosomal dominant; Cervical cancer, somatic, 603956 (3); Colorectal cancer, somatic, 114500 (3); Crouzon syndrome with acanthosis nigricans, 612247 (3), Autosomal dominant; Hypochondroplasia, 146000 (3), Autosomal dominant; LADD syndrome, 149730 (3), Autosomal dominant; Muenke syndrome, 602849 (3), Autosomal dominant; Nevus, epidermal, somatic, 162900 (3); SADDAN, 616482 (3), Autosomal dominant; Spermatocytic seminoma, somatic, 273300 (3); Thanatophoric dysplasia, type I, 187600 (3), Autosomal dominant; Thanatophoric dysplasia, type II, 187601 (3), Autosomal dominant
ENSG00000068120	Neurodegeneration with brain iron accumulation 6, 615643 (3), Autosomal recessive
ENSG00000068305	{Coronary artery disease, autosomal dominant, 1}, 608320 (3), Autosomal dominant
ENSG00000068323	Renal cell carcinoma, papillary, 1, 300854 (3)
ENSG00000068366	Mental retardation, X-linked 63, 300387 (3), X-linked dominant
ENSG00000068438	Mental retardation, X-linked 9/44, 309549 (3), X-linked recessive
ENSG00000068615	?Neuronopathy, distal hereditary motor, type VB, 614751 (3), Autosomal dominant; Spastic paraplegia 31, autosomal dominant, 610250 (3), Autosomal dominant
ENSG00000068654	Acrofacial dysostosis, Cincinnati type, 616462 (3), Autosomal dominant
ENSG00000068724	Gastrointestinal defects and immunodeficiency syndrome, 243150 (3), Autosomal recessive
ENSG00000068796	Cortical dysplasia, complex, with other brain malformations 3, 615411 (3), Autosomal dominant
ENSG00000068831	?Bleeding disorder, platelet-type, 18, 615888 (3), Autosomal recessive
ENSG00000068885	Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3), Autosomal recessive
ENSG00000068976	McArdle disease, 232600 (3), Autosomal recessive
ENSG00000069011	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3), Autosomal dominant; Liebenberg syndrome, 186550 (4), Autosomal dominant
ENSG00000069329	{Parkinson disease 17}, 614203 (3), Autosomal dominant
ENSG00000069431	Atrial fibrillation, familial, 12, 614050 (3), Autosomal dominant; Cardiomyopathy, dilated, 1O, 608569 (3); Hypertrichotic osteochondrodysplasia, 239850 (3), Autosomal dominant
ENSG00000069482	?Epilepsy, familial temporal lobe, 8, 616461 (3), Autosomal dominant
ENSG00000069667	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 (3), Autosomal dominant
ENSG00000069696	{Attention deficit-hyperactivity disorder}, 143465 (3), Autosomal dominant; Autonomic nervous system dysfunction (3); [Novelty seeking personality], 601696 (1), ?Autosomal dominant
ENSG00000069966	Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 (3), Autosomal recessive
ENSG00000069974	Griscelli syndrome, type 2, 607624 (3), Autosomal recessive
ENSG00000070018	{Coronary artery disease, autosomal dominant, 2}, 610947 (3), Autosomal dominant; Tooth agenesis, selective, 7, 616724 (3), Autosomal dominant
ENSG00000070019	Diarrhea 6, 614616 (3), Autosomal dominant; Meconium ileus, 614665 (3), Autosomal recessive
ENSG00000070061	Dysautonomia, familial, 223900 (3), Autosomal recessive
ENSG00000070182	Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3); Elliptocytosis-3, 617948 (3); Spherocytosis, type 2, 616649 (3), Autosomal dominant
ENSG00000070193	Aplasia of lacrimal and salivary glands, 180920 (3), Autosomal dominant; LADD syndrome, 149730 (3), Autosomal dominant
ENSG00000070269	Structural heart defects and renal anomalies syndrome, 617478 (3), Autosomal recessive
ENSG00000070610	Spastic paraplegia 46, autosomal recessive, 614409 (3), Autosomal recessive
ENSG00000070614	Mental retardation, autosomal recessive 46, 616116 (3), Autosomal recessive
ENSG00000070669	Asparagine synthetase deficiency, 615574 (3), Autosomal recessive
ENSG00000070729	Retinitis pigmentosa 45, 613767 (3), Autosomal recessive
ENSG00000070748	Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3), Autosomal recessive
ENSG00000070785	Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive
ENSG00000070808	Mental retardation, autosomal dominant 53, 617798 (3), Autosomal dominant; ?Mental retardation, autosomal recessive 63, 618095 (3), Autosomal recessive
ENSG00000070814	Treacher Collins syndrome 1, 154500 (3), Autosomal dominant
ENSG00000070831	Takenouchi-Kosaki syndrome, 616737 (3), Autosomal dominant
ENSG00000070915	Gitelman syndrome, 263800 (3), Autosomal recessive
ENSG00000071539	Mosaic variegated aneuploidy syndrome 3, 617598 (3), Autosomal recessive
ENSG00000071553	Immunodeficiency 47, 300972 (3), X-linked recessive
ENSG00000071564	Agammaglobulinemia 8, autosomal dominant, 616941 (3), Autosomal dominant
ENSG00000072042	?Retinal dystrophy, juvenile cataracts, and short stature syndrome, 616108 (3), Autosomal recessive
ENSG00000072062	Cushing syndrome, ACTH-independent adrenal, somatic, 615830 (3)
ENSG00000072110	Bleeding disorder, platelet-type, 15, 615193 (3), Autosomal dominant
ENSG00000072121	Spastic paraplegia 15, autosomal recessive, 270700 (3), Autosomal recessive
ENSG00000072163	?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue, 616827 (3), Autosomal recessive
ENSG00000072195	Centronuclear myopathy 5, 615959 (3), Autosomal recessive
ENSG00000072210	Sjogren-Larsson syndrome, 270200 (3), Autosomal recessive
ENSG00000072274	Immunodeficiency 46, 616740 (3), Autosomal recessive
ENSG00000072364	CHOPS syndrome, 616368 (3), Autosomal dominant
ENSG00000072501	Cornelia de Lange syndrome 2, 300590 (3), X-linked dominant
ENSG00000072506	HSD10 mitochondrial disease, 300438 (3), X-linked dominant
ENSG00000072571	{Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant
ENSG00000072682	Myopia 25, autosomal dominant, 617238 (3), Autosomal dominant
ENSG00000072694	{Malaria, resistance to}, 611162 (3); {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant
ENSG00000072756	Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3), Autosomal recessive; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3), Autosomal recessive
ENSG00000072778	VLCAD deficiency, 201475 (3), Autosomal recessive
ENSG00000072840	Ellis-van Creveld syndrome, 225500 (3), Autosomal recessive; ?Weyers acrofacial dysostosis, 193530 (3), Autosomal dominant
ENSG00000072864	Lissencephaly 4 (with microcephaly), 614019 (3), Autosomal recessive; ?Microhydranencephaly, 605013 (3), Autosomal recessive
ENSG00000073050	?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3), Autosomal recessive
ENSG00000073060	[High density lipoprotein cholesterol level QTL6], 610762 (3)
ENSG00000073111	?Deafness, autosomal dominant 70, 616968 (3), Autosomal dominant
ENSG00000073282	ADULT syndrome, 103285 (3), Autosomal dominant; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3), Autosomal dominant; Hay-Wells syndrome, 106260 (3), Autosomal dominant; Limb-mammary syndrome, 603543 (3), Autosomal dominant; Orofacial cleft 8, 618149 (3); Rapp-Hodgkin syndrome, 129400 (3), Autosomal dominant; Split-hand/foot malformation 4, 605289 (3), Autosomal dominant
ENSG00000073464	Mental retardation, X-linked 49/15, 300114 (3), X-linked recessive
ENSG00000073578	Cardiomyopathy, dilated, 1GG, 613642 (3); Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial respiratory chain complex II deficiency, 252011 (3), Autosomal recessive; Paragangliomas 5, 614165 (3), Autosomal dominant
ENSG00000073584	Coffin-Siris syndrome 5, 616938 (3), Autosomal dominant; {Meningioma, familial, susceptibility to}, 607174 (3), Autosomal dominant
ENSG00000073734	Cholestasis, benign recurrent intrahepatic, 2, 605479 (3), Autosomal recessive; Cholestasis, progressive familial intrahepatic 2, 601847 (3), Autosomal recessive
ENSG00000073792	{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant
ENSG00000073861	Asthma and nasal polyps, 208550 (3), Autosomal recessive; {Asthma, aspirin-induced, susceptibility to}, 208550 (3), Autosomal recessive
ENSG00000073921	Leukemia, acute myeloid, somatic, 601626 (3)
ENSG00000074047	Culler-Jones syndrome, 615849 (3), Autosomal dominant; Holoprosencephaly 9, 610829 (3), Autosomal dominant
ENSG00000074071	Combined oxidative phosphorylation deficiency 32, 617664 (3), Autosomal recessive
ENSG00000074181	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3), Autosomal dominant; Lateral meningocele syndrome, 130720 (3), Autosomal dominant; ?Myofibromatosis, infantile 2, 615293 (3), Autosomal dominant
ENSG00000074266	Cohen-Gibson syndrome, 617561 (3), Autosomal dominant
ENSG00000074317	Dementia, Lewy body, 127750 (3), Autosomal dominant
ENSG00000074410	Hyperchlorhidrosis, isolated, 143860 (3), Autosomal recessive
ENSG00000074582	Bjornstad syndrome, 262000 (3), Autosomal recessive; GRACILE syndrome, 603358 (3); Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial complex III deficiency, nuclear type 1, 124000 (3), Autosomal recessive
ENSG00000074621	Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3), Autosomal recessive
ENSG00000074695	Combined factor V and VIII deficiency, 227300 (3), Autosomal recessive
ENSG00000074803	Bartter syndrome, type 1, 601678 (3), Autosomal recessive
ENSG00000075043	Epileptic encephalopathy, early infantile, 7, 613720 (3), Autosomal dominant; Myokymia, 121200 (3), Autosomal dominant; Seizures, benign neonatal, 1, 121200 (3), Autosomal dominant
ENSG00000075213	{Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3), Autosomal dominant
ENSG00000075239	Alpha-methylacetoacetic aciduria, 203750 (3), Autosomal recessive
ENSG00000075415	Mitochondrial phosphate carrier deficiency, 610773 (3)
ENSG00000075624	Baraitser-Winter syndrome 1, 243310 (3), Autosomal dominant; ?Dystonia, juvenile-onset, 607371 (3), Autosomal dominant
ENSG00000075643	Xanthinuria, type II, 603592 (3), Autosomal recessive
ENSG00000075651	Cardiac valvular defect, developmental, 212093 (3), Autosomal recessive
ENSG00000075702	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3), Autosomal recessive
ENSG00000075785	Charcot-Marie-Tooth disease, type 2B, 600882 (3), Autosomal dominant
ENSG00000075886	Keratoconus 9, 617928 (3), Autosomal dominant
ENSG00000075891	Glomerulosclerosis, focal segmental, 7, 616002 (3), Autosomal dominant; Papillorenal syndrome, 120330 (3), Autosomal dominant
ENSG00000076003	Lactase persistence/nonpersistence, 223100 (3), Autosomal dominant
ENSG00000076242	Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3); Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive; Muir-Torre syndrome, 158320 (3), Autosomal dominant
ENSG00000076248	Immunodeficiency with hyper IgM, type 5, 608106 (3), Autosomal recessive
ENSG00000076351	Folate malabsorption, hereditary, 229050 (3), Autosomal recessive
ENSG00000076685	Spastic paraplegia 45, autosomal recessive, 613162 (3), Autosomal recessive
ENSG00000076944	Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
ENSG00000077092	Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive, Autosomal dominant
ENSG00000077150	Immunodeficiency, common variable, 10, 615577 (3), Autosomal dominant
ENSG00000077152	Fanconi anemia, complementation group T, 616435 (3), Autosomal recessive
ENSG00000077238	{AIDS, slow progression to}, 609423 (3); {Atopy, susceptibility to}, 147050 (3), Autosomal dominant
ENSG00000077264	Mental retardation, X-linked 30/47, 300558 (3), X-linked recessive
ENSG00000077279	Lissencephaly, X-linked, 300067 (3), X-linked; Subcortical laminal heterotopia, X-linked, 300067 (3), X-linked
ENSG00000077498	Albinism, oculocutaneous, type IA, 203100 (3), Autosomal recessive; Albinism, oculocutaneous, type IB, 606952 (3); {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3); [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3); [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3); Waardenburg syndrome/albinism, digenic, 103470 (3), Autosomal dominant
ENSG00000077522	Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3), Autosomal dominant
ENSG00000077721	Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3), X-linked recessive
ENSG00000077782	Encephalocraniocutaneous lipomatosis, 613001 (3), Somatic mosaicism; Hartsfield syndrome, 615465 (3), Autosomal dominant; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3), Autosomal dominant; Jackson-Weiss syndrome, 123150 (3), Autosomal dominant; Osteoglophonic dysplasia, 166250 (3), Autosomal dominant; Pfeiffer syndrome, 101600 (3), Autosomal dominant; Trigonocephaly 1, 190440 (3), Autosomal dominant
ENSG00000077943	Renal hypodysplasia/aplasia 1, 191830 (3), Autosomal recessive
ENSG00000078070	3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3), Autosomal recessive
ENSG00000078124	?Leukodystrophy, progressive, early childhood-onset, 617762 (3), Autosomal recessive
ENSG00000078369	Leukemia, acute lymphoblastic, somatic, 613065 (3); Mental retardation, autosomal dominant 42, 616973 (3), Autosomal dominant
ENSG00000078401	Auriculocondylar syndrome 3, 615706 (3), Autosomal recessive; {High density lipoprotein cholesterol level QTL 7} (3); Question mark ears, isolated, 612798 (3), Autosomal dominant
ENSG00000078403	Leukemia, acute myeloid, 601626 (3), Autosomal dominant
ENSG00000078579	?Renal hypodysplasia/aplasia 2, 615721 (3), Autosomal recessive
ENSG00000078747	Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3), Autosomal recessive
ENSG00000079215	Episodic ataxia, type 6, 612656 (3), Autosomal dominant
ENSG00000079335	Deafness, autosomal recessive 32, with or without immotile sperm, 608653 (3), Autosomal recessive
ENSG00000079432	Mental retardation, autosomal dominant 45, 617600 (3), Autosomal dominant
ENSG00000079435	Lipodystrophy, familial partial, type 6, 615980 (3), Autosomal recessive
ENSG00000079459	Squalene synthase deficiency, 618156 (3)
ENSG00000079482	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3), X-linked recessive
ENSG00000079616	Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3), Autosomal dominant
ENSG00000079739	Congenital disorder of glycosylation, type It, 614921 (3), Autosomal recessive
ENSG00000079805	Centronuclear myopathy 1, 160150 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3), Autosomal dominant; Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3), Autosomal dominant; Lethal congenital contracture syndrome 5, 615368 (3), Autosomal recessive
ENSG00000079841	Cone-rod dystrophy 7, 603649 (3)
ENSG00000080493	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3), Autosomal recessive
ENSG00000080503	Nicolaides-Baraitser syndrome, 601358 (3), Autosomal dominant
ENSG00000080561	?Mental retardation, X-linked 101, 300928 (3), X-linked recessive
ENSG00000080572	Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive
ENSG00000080603	Floating-Harbor syndrome, 136140 (3), Autosomal dominant
ENSG00000080644	{Lung cancer susceptibility 2}, 612052 (3)
ENSG00000080815	?Acne inversa, familial, 3, 613737 (3), Autosomal dominant; Alzheimer disease, type 3, 607822 (3), Autosomal dominant; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3), Autosomal dominant; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3), Autosomal dominant; Cardiomyopathy, dilated, 1U, 613694 (3), Autosomal dominant; Dementia, frontotemporal, 600274 (3), Autosomal dominant; Pick disease, 172700 (3), Autosomal dominant, Isolated cases
ENSG00000080819	Coproporphyria, 121300 (3), Autosomal dominant; Harderoporphyria, 121300 (3), Autosomal dominant
ENSG00000081014	Spastic paraplegia 51, autosomal recessive, 613744 (3), Autosomal recessive; Stuttering, familial persistent, 1, 184450 (3), Autosomal dominant
ENSG00000081051	Alpha-fetoprotein deficiency, 615969 (3), Autosomal recessive; [Hereditary persistence of alpha-fetoprotein], 615970 (3), Autosomal dominant
ENSG00000081052	Alport syndrome, autosomal recessive, 203780 (3), Autosomal recessive; Hematuria, familial benign (3)
ENSG00000081087	Osteopetrosis, autosomal recessive 5, 259720 (3), Autosomal recessive
ENSG00000081148	Macular dystrophy, vitelliform, 5, 616152 (3), Autosomal dominant; Retinitis pigmentosa 56, 613581 (3), Autosomal recessive
ENSG00000081189	Chromosome 5q14.3 deletion syndrome, 613443 (4), Autosomal dominant; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 (3), Autosomal dominant
ENSG00000081237	{Hepatitis C virus, susceptibility to}, 609532 (3); Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3), Autosomal recessive
ENSG00000081248	Hypokalemic periodic paralysis, type 1, 170400 (3), Autosomal dominant; {Malignant hyperthermia susceptibility 5}, 601887 (3), Autosomal dominant; {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3), Isolated cases
ENSG00000081277	Ectodermal dysplasia/skin fragility syndrome, 604536 (3)
ENSG00000081307	Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive; ?Spinocerebellar ataxia, autosomal recessive 24, 617133 (3), Autosomal recessive
ENSG00000081479	Donnai-Barrow syndrome, 222448 (3), Autosomal recessive
ENSG00000081923	Cholestasis, benign recurrent intrahepatic, 243300 (3), Autosomal recessive; Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3), Autosomal dominant; Cholestasis, progressive familial intrahepatic 1, 211600 (3), Autosomal recessive
ENSG00000082074	Thrombocytopenia 3, 273900 (3), Autosomal recessive
ENSG00000082458	Mental retardation, X-linked 90, 300850 (3), X-linked recessive
ENSG00000083093	{Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant; Fanconi anemia, complementation group N, 610832 (3); {Pancreatic cancer, susceptibility to, 3}, 613348 (3)
ENSG00000083123	Maple syrup urine disease, type Ib, 248600 (3), Autosomal recessive
ENSG00000083168	Mental retardation, autosomal dominant 32, 616268 (3), Autosomal dominant
ENSG00000083307	Corneal dystrophy, posterior polymorphous, 4, 618031 (3), Autosomal dominant; Deafness, autosomal dominant 28, 608641 (3), Autosomal dominant; Ectodermal dysplasia/short stature syndrome, 616029 (3), Autosomal recessive
ENSG00000083444	Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (3), Autosomal recessive
ENSG00000083535	Joubert syndrome 33, 617767 (3), Autosomal recessive
ENSG00000083720	Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
ENSG00000083799	Brooke-Spiegler syndrome, 605041 (3), Autosomal dominant; Cylindromatosis, familial, 132700 (3), Autosomal dominant; Trichoepithelioma, multiple familial, 1, 601606 (3), Autosomal dominant
ENSG00000083937	Amyotrophic lateral sclerosis 17, 614696 (3), Autosomal dominant; Dementia, familial, nonspecific, 600795 (3), Autosomal dominant
ENSG00000084073	Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3), Autosomal recessive; Restrictive dermopathy, lethal, 275210 (3), Autosomal recessive
ENSG00000084093	Fibromatosis, gingival, 5, 617626 (3), Autosomal dominant; {Wilms tumor 6, susceptibility to}, 616806 (3)
ENSG00000084110	[Histidinemia], 235800 (3), Autosomal recessive, Autosomal dominant
ENSG00000084674	Hypercholesterolemia, due to ligand-defective apo B, 144010 (3), Autosomal dominant; Hypobetalipoproteinemia, 615558 (3), Autosomal recessive
ENSG00000084693	Retinitis pigmentosa 75, 617023 (3), Autosomal recessive
ENSG00000084734	[Fasting plasma glucose level QTL 5], 613463 (3)
ENSG00000084754	Fatty liver, acute, of pregnancy, 609016 (3), Autosomal recessive; HELLP syndrome, maternal, of pregnancy, 609016 (3), Autosomal recessive; LCHAD deficiency, 609016 (3), Autosomal recessive; Trifunctional protein deficiency, 609015 (3), Autosomal recessive
ENSG00000084774	Epileptic encephalopathy, early infantile, 50, 616457 (3), Autosomal recessive
ENSG00000085063	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3), Autosomal recessive
ENSG00000085224	Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3); Alpha-thalassemia/mental retardation syndrome, 301040 (3), X-linked dominant; Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3), X-linked recessive
ENSG00000085276	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 (3), Autosomal dominant
ENSG00000085382	Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive
ENSG00000085491	Fontaine progeroid syndrome, 612289 (3), Autosomal dominant
ENSG00000085563	{Colchicine resistance}, 120080 (3); {Inflammatory bowel disease 13}, 612244 (3)
ENSG00000085788	Spastic paraplegia 54, autosomal recessive, 615033 (3), Autosomal recessive
ENSG00000085840	Meier-Gorlin syndrome 1, 224690 (3), Autosomal recessive
ENSG00000085978	{Inflammatory bowel disease (Crohn disease) 10}, 611081 (3)
ENSG00000085998	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3), Autosomal recessive; Retinitis pigmentosa 76, 617123 (3), Autosomal recessive
ENSG00000085999	Adenocarcinoma, colonic, somatic (3); {Breast cancer, invasive ductal}, 114480 (3), Autosomal dominant; Lymphoma, non-Hodgkin, somatic, 605027 (3)
ENSG00000086062	Congenital disorder of glycosylation, type IId, 607091 (3), Autosomal recessive
ENSG00000086288	Ciliary dyskinesia, primary, 6, 610852 (3), Autosomal recessive
ENSG00000086300	Osteopetrosis, autosomal recessive 8, 615085 (3), Autosomal recessive
ENSG00000086544	{Kawasaki disease, susceptibility to}, 611775 (3)
ENSG00000086570	Spinocerebellar ataxia 45, 617769 (3), Autosomal dominant
ENSG00000086758	Mental retardation, X-linked syndromic, Turner type, 300706 (3)
ENSG00000086848	Congenital disorder of glycosylation, type Il, 608776 (3), Autosomal recessive; Gillessen-Kaesbach-Nishimura syndrome, 263210 (3), Autosomal recessive
ENSG00000087053	Charcot-Marie-Tooth disease, type 4B1, 601382 (3), Autosomal recessive
ENSG00000087085	[Blood group, Yt system], 112100 (3)
ENSG00000087086	Hyperferritinemia-cataract syndrome, 600886 (3), Autosomal dominant; L-ferritin deficiency, dominant and recessive, 615604 (3), Autosomal recessive, Autosomal dominant; Neurodegeneration with brain iron accumulation 3, 606159 (3), Autosomal dominant
ENSG00000087088	Colorectal cancer, somatic, 114500 (3); T-cell acute lymphoblastic leukemia, somatic, 613065 (3)
ENSG00000087111	Glycosylphosphatidylinositol biosynthesis defect 18, 618143 (3), Autosomal recessive
ENSG00000087116	Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3), Autosomal recessive
ENSG00000087237	[High density lipoprotein cholesterol level QTL 10], 143470 (3), Autosomal dominant; Hyperalphalipoproteinemia, 143470 (3), Autosomal dominant
ENSG00000087245	Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3), Autosomal recessive
ENSG00000087258	Epileptic encephalopathy, early infantile, 17, 615473 (3), Autosomal dominant; Neurodevelopmental disorder with involuntary movements, 617493 (3), Autosomal dominant
ENSG00000087266	Cherubism, 118400 (3), Autosomal dominant
ENSG00000087274	{Hypertension, essential, salt-sensitive}, 145500 (3), Multifactorial
ENSG00000087299	L-2-hydroxyglutaric aciduria, 236792 (3), Autosomal recessive
ENSG00000087460	ACTH-independent macronodular adrenal hyperplasia, 219080 (3), Isolated cases; McCune-Albright syndrome, somatic, mosaic, 174800 (3); Osseous heteroplasia, progressive, 166350 (3), Autosomal dominant; Pituitary adenoma 3, multiple types, somatic, 617686 (3); Pseudohypoparathyroidism Ia, 103580 (3), Autosomal dominant; Pseudohypoparathyroidism Ib, 603233 (3), Autosomal dominant; Pseudohypoparathyroidism Ic, 612462 (3), Autosomal dominant; Pseudopseudohypoparathyroidism, 612463 (3), Autosomal dominant
ENSG00000087470	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3), Autosomal recessive, Autosomal dominant; Optic atrophy 5, 610708 (3), Autosomal dominant
ENSG00000087494	Brachydactyly, type E2, 613382 (3), Autosomal dominant
ENSG00000087586	{Colon cancer, susceptibility to}, 114500 (3), Autosomal dominant
ENSG00000088002	Ichthyosis, congenital, autosomal recessive 14, 617571 (3), Autosomal recessive
ENSG00000088035	Congenital disorder of glycosylation, type Ic, 603147 (3), Autosomal recessive
ENSG00000088053	Bleeding disorder, platelet-type, 11, 614201 (3), Autosomal recessive
ENSG00000088256	Hypocalcemia, autosomal dominant 2, 615361 (3), Autosomal dominant; Hypocalciuric hypercalcemia, type II, 145981 (3), Autosomal dominant
ENSG00000088305	Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3), Autosomal recessive
ENSG00000088367	?Mental retardation, autosomal dominant 11, 614257 (3)
ENSG00000088451	Catel-Manzke syndrome, 616145 (3), Autosomal recessive
ENSG00000088682	Coenzyme Q10 deficiency, primary, 5, 614654 (3), Autosomal recessive
ENSG00000088836	Corneal dystrophy, Fuchs endothelial, 4, 613268 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3), Autosomal recessive; Corneal endothelial dystrophy, autosomal recessive, 217700 (3), Autosomal recessive
ENSG00000088926	Factor XI deficiency, autosomal dominant, 612416 (3); Factor XI deficiency, autosomal recessive, 612416 (3)
ENSG00000088970	Retinitis pigmentosa 69, 615780 (3), Autosomal recessive
ENSG00000089225	Holt-Oram syndrome, 142900 (3), Autosomal dominant
ENSG00000089280	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3); Essential tremor, hereditary, 4, 614782 (3), Autosomal dominant
ENSG00000089289	Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 (3), X-linked recessive
ENSG00000089597	Polycystic kidney disease 3, 600666 (3), Autosomal dominant
ENSG00000089818	?Epileptic encephalopathy, early infantile, 21, 615833 (3), Autosomal recessive
ENSG00000090006	Cutis laxa, autosomal recessive, type IC, 613177 (3), Autosomal recessive
ENSG00000090020	?Lichtenstein-Knorr syndrome, 616291 (3), Autosomal recessive
ENSG00000090054	Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3), Autosomal dominant
ENSG00000090061	?Intellectual developmental disorder with hypertelorism and distinctive facies, 618147 (3), Autosomal dominant
ENSG00000090339	{Malaria, cerebral, susceptibility to}, 611162 (3)
ENSG00000090376	{Asthma susceptibility 5}, 611064 (3)
ENSG00000090382	Amyloidosis, renal, 105200 (3), Autosomal dominant
ENSG00000090402	Sucrase-isomaltase deficiency, congenital, 222900 (3), Autosomal recessive
ENSG00000090487	Mast syndrome, 248900 (3), Autosomal recessive
ENSG00000090520	Polycystic kidney disease 6 with or without polycystic liver disease, 618061 (3), Autosomal dominant
ENSG00000090530	Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3), Autosomal recessive
ENSG00000090534	Thrombocythemia 1, 187950 (3), Autosomal dominant
ENSG00000090581	Mucolipidosis III gamma, 252605 (3), Autosomal recessive
ENSG00000090659	{Dengue fever, protection against}, 614371 (3); {HIV type 1, susceptibility to}, 609423 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
ENSG00000090674	Mucolipidosis IV, 252650 (3), Autosomal recessive
ENSG00000090776	Craniofrontonasal dysplasia, 304110 (3), X-linked dominant
ENSG00000090861	Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 29, 616339 (3), Autosomal recessive
ENSG00000090889	?Mental retardation, X-linked 100, 300923 (3), X-linked recessive
ENSG00000090905	?Epilepsy, familial adult myoclonic, 6, 618074 (3)
ENSG00000090924	Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3), Autosomal recessive
ENSG00000090932	Spondylocostal dysostosis 1, autosomal recessive, 277300 (3), Autosomal recessive
ENSG00000091010	Deafness, autosomal dominant 15, 602459 (3), Autosomal dominant
ENSG00000091106	Autoinflammation with infantile enterocolitis, 616050 (3), Autosomal dominant; ?Familial cold autoinflammatory syndrome 4, 616115 (3), Autosomal dominant
ENSG00000091136	Lissencephaly 5, 615191 (3), Autosomal recessive
ENSG00000091137	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3), Autosomal recessive; Pendred syndrome, 274600 (3), Autosomal recessive
ENSG00000091138	Diarrhea 1, secretory chloride, congenital, 214700 (3), Autosomal recessive
ENSG00000091140	Dihydrolipoamide dehydrogenase deficiency, 246900 (3), Autosomal recessive
ENSG00000091262	Arterial calcification, generalized, of infancy, 2, 614473 (3), Autosomal recessive; Pseudoxanthoma elasticum, 264800 (3), Autosomal recessive; Pseudoxanthoma elasticum, forme fruste, 177850 (3), Autosomal dominant
ENSG00000091409	Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3), Autosomal recessive
ENSG00000091436	Centronuclear myopathy 6 with fiber-type disproportion, 617760 (3), Autosomal recessive; Split-foot malformation with mesoaxial polydactyly, 616890 (3), Autosomal recessive
ENSG00000091482	Deafness, X-linked 4, 300066 (3), X-linked dominant
ENSG00000091483	Fumarase deficiency, 606812 (3), Autosomal recessive; Leiomyomatosis and renal cell cancer, 150800 (3), Autosomal dominant
ENSG00000091513	Atransferrinemia, 209300 (3), Autosomal recessive
ENSG00000091536	Deafness, autosomal recessive 3, 600316 (3), Autosomal recessive
ENSG00000091592	Autoinflammation with arthritis and dyskeratosis, 617388 (3), Autosomal recessive, Autosomal dominant; Palmoplantar carcinoma, multiple self-healing, 615225 (3), Autosomal dominant; {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
ENSG00000091622	Cone-rod dystrophy 5, 600977 (3), Autosomal dominant
ENSG00000091651	Meier-Gorlin syndrome 3, 613803 (3), Autosomal recessive
ENSG00000091831	{Atherosclerosis, susceptibility to} (3); {Breast cancer}, 114480 (1), Autosomal dominant; Estrogen resistance, 615363 (3), Autosomal recessive; {HDL response to hormone replacement, augmented} (3); {Migraine, susceptibility to}, 157300 (3), Autosomal dominant; {Myocardial infarction, susceptibility to}, 608446 (3)
ENSG00000092054	Cardiomyopathy, dilated, 1S, 613426 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 1, 192600 (3), Autosomal dominant; Laing distal myopathy, 160500 (3), Autosomal dominant; Left ventricular noncompaction 5, 613426 (3), Autosomal dominant; Myopathy, myosin storage, autosomal dominant, 608358 (3), Autosomal dominant; Myopathy, myosin storage, autosomal recessive, 255160 (3), Autosomal recessive; Scapuloperoneal syndrome, myopathic type, 181430 (3), Autosomal dominant
ENSG00000092067	Specific granule deficiency, 245480 (3), Autosomal recessive
ENSG00000092094	Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive
ENSG00000092200	Cone-rod dystrophy 13, 608194 (3); Leber congenital amaurosis 6, 613826 (3)
ENSG00000092295	Ichthyosis, congenital, autosomal recessive 1, 242300 (3), Autosomal recessive
ENSG00000092330	Dyskeratosis congenita, autosomal dominant 3, 613990 (3), Autosomal dominant; Revesz syndrome, 268130 (3), Autosomal dominant
ENSG00000092345	{Spermatogenic failure, susceptibility to} (3)
ENSG00000092439	{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3), Autosomal dominant
ENSG00000092529	Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600 (3), Autosomal recessive
ENSG00000092607	Cousin syndrome, 260660 (3), Autosomal recessive
ENSG00000092621	Neu-Laxova syndrome 1, 256520 (3), Autosomal recessive; Phosphoglycerate dehydrogenase deficiency, 601815 (3), Autosomal recessive
ENSG00000092758	Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3), Autosomal dominant; {Intervertebral disc disease, susceptibility to}, 603932 (3)
ENSG00000092929	Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
ENSG00000092969	Loeys-Dietz syndrome 4, 614816 (3), Autosomal dominant
ENSG00000093009	Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive
ENSG00000093010	{Panic disorder, susceptibility to}, 167870 (3), ?Autosomal dominant; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant
ENSG00000093072	Polyarteritis nodosa, childhood-onset, 615688 (3), Autosomal recessive; ?Sneddon syndrome, 182410 (3), Autosomal recessive
ENSG00000094631	?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863 (3), X-linked dominant
ENSG00000094804	?Meier-Gorlin syndrome 5, 613805 (3), Autosomal recessive
ENSG00000094914	Achalasia-addisonianism-alacrimia syndrome, 231550 (3), Autosomal recessive
ENSG00000095002	Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3), Autosomal dominant; Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive; Muir-Torre syndrome, 158320 (3), Autosomal dominant
ENSG00000095015	46XY sex reversal 6, 613762 (3), Autosomal dominant
ENSG00000095139	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3), Autosomal dominant
ENSG00000095209	Osteogenesis imperfecta, type XIV, 615066 (3)
ENSG00000095321	?Neurodegeneration with brain iron accumulation 8, 617917 (3), Autosomal recessive
ENSG00000095380	Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive
ENSG00000095397	Deafness, autosomal recessive 31, 607084 (3), Autosomal recessive; Usher syndrome, type 2D, 611383 (3), Autosomal recessive
ENSG00000095464	Cone dystrophy 4, 613093 (3), Autosomal recessive
ENSG00000095485	Spinocerebellar ataxia, autosomal recessive 17, 616127 (3), Autosomal recessive
ENSG00000095585	?Agammaglobulinemia 4, 613502 (3), Autosomal recessive
ENSG00000095777	Deafness, autosomal recessive 30, 607101 (3), Autosomal recessive
ENSG00000095787	Desanto-Shinawi syndrome, 616708 (3), Autosomal dominant
ENSG00000095970	Nasu-Hakola disease, 221770 (3), Autosomal recessive
ENSG00000096060	{Major depressive disorder and accelerated response to antidepressant drug treatment}, 608516 (3)
ENSG00000096093	{Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3), Autosomal dominant; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3), Autosomal dominant
ENSG00000096696	Arrhythmogenic right ventricular dysplasia 8, 607450 (3), Autosomal dominant; Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3), Autosomal recessive; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3), Autosomal dominant; Epidermolysis bullosa, lethal acantholytic, 609638 (3), Autosomal recessive; Keratosis palmoplantaris striata II, 612908 (3), Autosomal dominant; Skin fragility-woolly hair syndrome, 607655 (3), Autosomal recessive
ENSG00000096872	?Bardet-Biedl syndrome 20, 617119 (3), Autosomal recessive
ENSG00000096968	{Budd-Chiari syndrome, somatic}, 600880 (3); Erythrocytosis, somatic, 133100 (3); Leukemia, acute myeloid, somatic, 601626 (3); Myelofibrosis, somatic, 254450 (3); Polycythemia vera, somatic, 263300 (3); Thrombocythemia 3, 614521 (3), Autosomal dominant, Somatic mutation
ENSG00000096996	Immunodeficiency 30, 614891 (3), Autosomal recessive
ENSG00000097007	Congenital heart defects and skeletal malformations syndrome, 617602 (3), Autosomal dominant; Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
ENSG00000099246	Warburg micro syndrome 3, 614222 (3), Autosomal recessive
ENSG00000099331	{Celiac disease, susceptibility to, 4}, 609753 (3)
ENSG00000099365	Generalized epilepsy with febrile seizures plus, type 9, 616172 (3), Autosomal dominant
ENSG00000099377	Bile acid synthesis defect, congenital, 1, 607765 (3), Autosomal recessive
ENSG00000099624	Mitochondrial complex V (ATP synthase) deficiency, 618120 (3), Autosomal recessive
ENSG00000099769	Acid-labile subunit, deficiency of, 615961 (3)
ENSG00000099797	Mental retardation, autosomal recessive 14, 614020 (3), Autosomal recessive
ENSG00000099810	Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3), Autosomal dominant
ENSG00000099937	Thrombophilia due to heparin cofactor II deficiency, 612356 (3), Autosomal dominant
ENSG00000099940	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3), Autosomal recessive
ENSG00000099949	Noonan syndrome 10, 616564 (3), Autosomal dominant; {Schwannomatosis-2, susceptibility to}, 615670 (3), Autosomal dominant
ENSG00000099956	Coffin-Siris syndrome 3, 614608 (3), Autosomal dominant; {Rhabdoid tumor predisposition syndrome 1}, 609322 (3), Autosomal dominant; Rhabdoid tumors, somatic, 609322 (3); {Schwannomatosis-1, susceptibility to}, 162091 (3), Autosomal dominant
ENSG00000100014	?Facial clefting, oblique, 1, 600251 (3), Autosomal dominant; Opitz GBBB syndrome, type II, 145410 (3), Autosomal dominant
ENSG00000100024	Beta-ureidopropionase deficiency, 613161 (3), Autosomal recessive
ENSG00000100031	?Glutathioninuria, 231950 (3), Autosomal recessive
ENSG00000100033	Hyperprolinemia, type I, 239500 (3), Autosomal recessive; {Schizophrenia, susceptibility to, 4}, 600850 (3), Autosomal dominant
ENSG00000100053	Cataract 22, 609741 (3), Autosomal recessive, Autosomal dominant
ENSG00000100075	Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3), Autosomal recessive
ENSG00000100079	{Myocardial infarction, susceptibility to}, 608446 (3)
ENSG00000100099	Hermansky-Pudlak syndrome 4, 614073 (3), Autosomal recessive
ENSG00000100106	Deafness, autosomal recessive 28, 609823 (3), Autosomal recessive
ENSG00000100122	Cataract 17, multiple types, 611544 (3), Autosomal recessive, Autosomal dominant
ENSG00000100146	PCWH syndrome, 609136 (3), Autosomal dominant; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3), Autosomal dominant; Waardenburg syndrome, type 4C, 613266 (3), Autosomal dominant
ENSG00000100150	Epilepsy, familial focal, with variable foci 1, 604364 (3), Autosomal dominant
ENSG00000100170	Glucose/galactose malabsorption, 606824 (3), Autosomal recessive
ENSG00000100197	{Codeine sensitivity}, 608902 (3), Autosomal recessive; {Debrisoquine sensitivity}, 608902 (3), Autosomal recessive
ENSG00000100219	{Major affective disorder-7, susceptibility to}, 612371 (3)
ENSG00000100225	Parkinson disease 15, autosomal recessive, 260300 (3), Autosomal recessive
ENSG00000100234	Sorsby fundus dystrophy, 136900 (3), Autosomal dominant
ENSG00000100241	Charcot-Marie-Tooth disease, type 4B3, 615284 (3), Autosomal recessive
ENSG00000100243	Methemoglobinemia, type I, 250800 (3), Autosomal recessive; Methemoglobinemia, type II, 250800 (3), Autosomal recessive
ENSG00000100246	?Mirror movements 3, 616059 (3), Autosomal recessive
ENSG00000100285	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3), Autosomal dominant
ENSG00000100288	Muscular dystrophy, congenital, megaconial type, 602541 (3), Autosomal recessive
ENSG00000100292	Heme oxygenase-1 deficiency, 614034 (3); {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (3)
ENSG00000100297	?Meier-Gorlin syndrome 8, 617564 (3), Autosomal recessive
ENSG00000100299	Metachromatic leukodystrophy, 250100 (3), Autosomal recessive
ENSG00000100311	Basal ganglia calcification, idiopathic, 5, 615483 (3), Autosomal dominant; Dermatofibrosarcoma protuberans, 607907 (3); Meningioma, SIS-related, 607174 (3), Autosomal dominant
ENSG00000100342	{End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3); {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3)
ENSG00000100345	Deafness, autosomal dominant 17, 603622 (3), Autosomal dominant; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3), Autosomal dominant
ENSG00000100348	?Combined oxidative phosphorylation deficiency 29, 616811 (3), Autosomal recessive
ENSG00000100360	?Bardet-Biedl syndrome 19, 615996 (3), Autosomal recessive
ENSG00000100365	?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3), Autosomal recessive
ENSG00000100368	Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3), Autosomal recessive
ENSG00000100379	Dystonia 26, myoclonic, 616398 (3), Autosomal dominant
ENSG00000100393	Colorectal cancer, somatic, 114500 (3); Rubinstein-Taybi syndrome 2, 613684 (3), Autosomal dominant
ENSG00000100412	Infantile cerebellar-retinal degeneration, 614559 (3), Autosomal recessive; ?Optic atrophy 9, 616289 (3), Autosomal recessive
ENSG00000100416	{Deafness, mitochondrial, modifier of}, 580000 (3), Mitochondrial; Liver failure, transient infantile, 613070 (3), Autosomal recessive
ENSG00000100427	Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3), Autosomal recessive
ENSG00000100473	Deafness, autosomal dominant 9, 601369 (3), Autosomal dominant; ?Deafness, autosomal recessive 110, 618094 (3), Autosomal recessive
ENSG00000100478	Spastic paraplegia 52, autosomal recessive, 614067 (3), Autosomal recessive
ENSG00000100485	Noonan syndrome 9, 616559 (3), Autosomal dominant
ENSG00000100503	?Seckel syndrome 7, 614851 (3), Autosomal recessive
ENSG00000100504	Glycogen storage disease VI, 232700 (3), Autosomal recessive
ENSG00000100523	Spastic paraplegia 28, autosomal recessive, 609340 (3), Autosomal recessive
ENSG00000100564	Glycosylphosphatidylinositol biosynthesis defect 17, 618010 (3), Autosomal recessive
ENSG00000100577	[Maleylacetoacetate isomerase deficiency], 617596 (3), Autosomal recessive
ENSG00000100578	Joubert syndrome 23, 616490 (3), Autosomal recessive; Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive
ENSG00000100596	Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3), Autosomal dominant
ENSG00000100697	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3), Autosomal dominant; Pleuropulmonary blastoma, 601200 (3), Autosomal dominant; Rhabdomyosarcoma, embryonal, 2, 180295 (3)
ENSG00000100714	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive; {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive
ENSG00000100722	Mental retardation, autosomal recessive 56, 617125 (3), Autosomal recessive
ENSG00000100726	You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive
ENSG00000100749	Pontocerebellar hypoplasia type 1A, 607596 (3), Autosomal recessive
ENSG00000100811	Gabriele-de Vries syndrome, 617557 (3), Autosomal dominant
ENSG00000100815	Achondrogenesis, type IA, 200600 (3), Autosomal recessive
ENSG00000100836	Oculopharyngeal muscular dystrophy, 164300 (3), Autosomal dominant
ENSG00000100888	{Autism, susceptibility to, 18}, 615032 (3), Autosomal dominant
ENSG00000100902	{Myocardial infarction, susceptibility to}, 608446 (3)
ENSG00000100906	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132 (3), Autosomal dominant
ENSG00000100934	Craniolenticulosutural dysplasia, 607812 (3), Autosomal recessive
ENSG00000100979	[High density lipoprotein cholesterol level QTL 9] (3)
ENSG00000100983	Glutathione synthetase deficiency, 266130 (3), Autosomal recessive; Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3), Autosomal recessive
ENSG00000100985	Metaphyseal anadysplasia 2, 613073 (3)
ENSG00000100987	?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3); Keratoconus 1, 148300 (3), Autosomal dominant
ENSG00000100997	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3), Autosomal recessive
ENSG00000101003	Immunodeficiency 55, 617827 (3), Autosomal recessive
ENSG00000101017	Immunodeficiency with hyper-IgM, type 3, 606843 (3), Autosomal recessive
ENSG00000101052	Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3), Autosomal recessive
ENSG00000101076	{Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3), Autosomal dominant; MODY, type I, 125850 (3), Autosomal dominant
ENSG00000101109	T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3)
ENSG00000101115	Duane-radial ray syndrome, 607323 (3), Autosomal dominant; IVIC syndrome, 147750 (3), Autosomal dominant
ENSG00000101126	Helsmoortel-van der Aa syndrome, 615873 (3), Autosomal dominant
ENSG00000101152	Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 (3), Autosomal dominant
ENSG00000101161	Retinitis pigmentosa 60, 613983 (3), Autosomal dominant
ENSG00000101162	Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3), Autosomal dominant
ENSG00000101194	Porokeratosis 8, disseminated superficial actinic type, 616063 (3), Autosomal dominant
ENSG00000101200	Diabetes insipidus, neurohypophyseal, 125700 (3), Autosomal dominant
ENSG00000101204	Epilepsy, nocturnal frontal lobe, 1, 600513 (3), Autosomal dominant; {Nicotine addiction, susceptibility to}, 188890 (3)
ENSG00000101210	Epileptic encephalopathy, early infantile, 33, 616409 (3), Autosomal dominant; Mental retardation, autosomal dominant 38, 616393 (3), Autosomal dominant
ENSG00000101247	Mitochondrial complex 1 deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000101266	Okur-Chung neurodevelopmental syndrome, 617062 (3), Autosomal dominant
ENSG00000101276	Brown-Vialetto-Van Laere syndrome 1, 211530 (3), Autosomal recessive; ?Fazio-Londe disease, 211500 (3), Autosomal recessive
ENSG00000101282	Anonychia congenita, 206800 (3), Autosomal recessive
ENSG00000101292	Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3), Autosomal dominant
ENSG00000101306	Cardiomyopathy, hypertrophic, 1, digenic, 192600 (3), Autosomal dominant
ENSG00000101310	?Cowden syndrome 7, 616858 (3), Autosomal dominant; Dyserythropoietic anemia, congenital, type II, 224100 (3), Autosomal recessive
ENSG00000101311	Kindler syndrome, 173650 (3), Autosomal recessive
ENSG00000101327	Spinocerebellar ataxia 23, 610245 (3), Autosomal dominant
ENSG00000101333	Auriculocondylar syndrome 2, 614669 (3), Autosomal recessive, Autosomal dominant
ENSG00000101346	Dowling-Degos disease 2, 615327 (3), Autosomal dominant
ENSG00000101347	Aicardi-Goutieres syndrome 5, 612952 (3), Autosomal recessive; ?Chilblain lupus 2, 614415 (3), Autosomal dominant
ENSG00000101361	Spinocerebellar ataxia 36, 614153 (3), Autosomal dominant
ENSG00000101365	Retinitis pigmentosa 46, 612572 (3)
ENSG00000101384	Alagille syndrome 1, 118450 (3), Autosomal dominant; ?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3); Tetralogy of Fallot, 187500 (3), Autosomal dominant
ENSG00000101400	Long QT syndrome 12, 612955 (3), Autosomal dominant
ENSG00000101421	Cataract 31, multiple types, 605387 (3), Autosomal dominant
ENSG00000101439	Cerebral amyloid angiopathy, 105150 (3), Autosomal dominant; {Macular degeneration, age-related, 11}, 611953 (3)
ENSG00000101440	[Skin/hair/eye pigmentation 9, brown/nonbrown eyes], 611742 (3); [Skin/hair/eye pigmentation 9, dark/light hair], 611742 (3)
ENSG00000101444	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3), Autosomal recessive
ENSG00000101577	Majeed syndrome, 609628 (3)
ENSG00000101596	Bosma arhinia microphthalmia syndrome, 603457 (3), Autosomal dominant; Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
ENSG00000101665	{Colorectal cancer, susceptibility to, 3}, 612229 (3)
ENSG00000101680	Poretti-Boltshauser syndrome, 615960 (3), Autosomal recessive
ENSG00000101695	Tenorio syndrome, 616260 (3), Autosomal dominant
ENSG00000101752	Left ventricular noncompaction 7, 615092 (3), Autosomal dominant
ENSG00000101773	Jawad syndrome, 251255 (3), Autosomal recessive; Pancreatic carcinoma, somatic (3); Seckel syndrome 2, 606744 (3), Autosomal recessive
ENSG00000101846	Ichthyosis, X-linked, 308100 (3), X-linked recessive
ENSG00000101850	Nystagmus 6, congenital, X-linked, 300814 (3); Ocular albinism, type I, Nettleship-Falls type, 300500 (3), X-linked
ENSG00000101868	Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive
ENSG00000101871	Opitz GBBB syndrome, type I, 300000 (3), X-linked recessive
ENSG00000101901	?Congenital disorder of glycosylation, type Is, 300884 (3), X-linked dominant; Epileptic encephalopathy, early infantile, 36, 300884 (3), X-linked dominant
ENSG00000101935	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 (3), X-linked recessive
ENSG00000101938	Megalocornea 1, X-linked, 309300 (3), X-linked recessive
ENSG00000101966	Lymphoproliferative syndrome, X-linked, 2, 300635 (3), X-linked recessive
ENSG00000101974	?Hemolytic anemia, congenital, X-linked, 301015 (3), X-linked recessive
ENSG00000101981	{Deep venous thrombosis, protection against}, 300807 (3); Hemophilia B, 306900 (3), X-linked recessive; Thrombophilia, X-linked, due to factor IX defect, 300807 (3); {Warfarin sensitivity}, 122700 (3), Autosomal dominant
ENSG00000101986	Adrenoleukodystrophy, 300100 (3), X-linked recessive; Adrenomyeloneuropathy, adult, 300100 (3), X-linked recessive
ENSG00000101997	Ritscher-Schinzel syndrome 2, 300963 (3), X-linked recessive
ENSG00000102001	Aland Island eye disease, 300600 (3), X-linked; Cone-rod dystrophy, X-linked, 3, 300476 (3), X-linked recessive; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3), X-linked
ENSG00000102003	Mental retardation, X-linked 96, 300802 (3), X-linked recessive
ENSG00000102024	Bone mineral density QTL18, osteoporosis, 300910 (3), X-linked dominant
ENSG00000102030	?Microphthalmia, syndromic 1, 309800 (3), X-linked; Ogden syndrome, 300855 (3), X-linked recessive, X-linked dominant
ENSG00000102076	Blue cone monochromacy, 303700 (3), X-linked recessive; Colorblindness, protan, 303900 (3), X-linked
ENSG00000102081	Fragile X syndrome, 300624 (3), X-linked dominant; Fragile X tremor/ataxia syndrome, 300623 (3), X-linked dominant; Premature ovarian failure 1, 311360 (3), X-linked
ENSG00000102100	Congenital disorder of glycosylation, type IIm, 300896 (3), X-linked dominant, Somatic mosaicism
ENSG00000102103	Renpenning syndrome, 309500 (3), X-linked recessive
ENSG00000102104	Retinoschisis, 312700 (3), X-linked recessive
ENSG00000102119	Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3), X-linked recessive
ENSG00000102125	Barth syndrome, 302060 (3), X-linked recessive
ENSG00000102144	Phosphoglycerate kinase 1 deficiency, 300653 (3), X-linked recessive
ENSG00000102145	Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3), X-linked recessive; Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 (3); Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3), X-linked recessive; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3), X-linked recessive
ENSG00000102158	Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 (3)
ENSG00000102172	Mental retardation, X-linked, Snyder-Robinson type, 309583 (3), X-linked recessive
ENSG00000102174	Hypophosphatemic rickets, X-linked dominant, 307800 (3), X-linked dominant
ENSG00000102218	Retinitis pigmentosa 2, 312600 (3), X-linked
ENSG00000102245	Immunodeficiency, X-linked, with hyper-IgM, 308230 (3), X-linked recessive
ENSG00000102302	Aarskog-Scott syndrome, 305400 (3), X-linked recessive; Mental retardation, X-linked syndromic 16, 305400 (3), X-linked recessive
ENSG00000102312	Focal dermal hypoplasia, 305600 (3), X-linked dominant
ENSG00000102316	Bartter syndrome, type 5, antenatal, transient, 300971 (3), X-linked recessive
ENSG00000102359	?Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 (3)
ENSG00000102383	?Mental retardation, X-linked 91, 300577 (3), X-linked dominant
ENSG00000102393	Fabry disease, 301500 (3), X-linked; Fabry disease, cardiac variant, 301500 (3), X-linked
ENSG00000102452	Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3), Autosomal dominant; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3), Autosomal recessive
ENSG00000102466	Spinocerebellar ataxia 27, 609307 (3), Autosomal dominant
ENSG00000102468	{Alcohol dependence, susceptibility to}, 103780 (3), Multifactorial; {Anorexia nervosa, susceptibility to}, 606788 (3); {Major depressive disorder, response to citalopram therapy in}, 608516 (3); {Obsessive-compulsive disorder, susceptibility to}, 164230 (3), Autosomal dominant; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant; {Seasonal affective disorder, susceptibility to}, 608516 (3)
ENSG00000102575	Spondyloenchondrodysplasia with immune dysregulation, 607944 (3), Autosomal recessive
ENSG00000102580	?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 (3), Autosomal recessive
ENSG00000102678	Multiple synostoses syndrome 3, 612961 (3), Autosomal dominant
ENSG00000102683	Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3), Autosomal recessive
ENSG00000102743	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3), Autosomal recessive
ENSG00000102805	Ceroid lipofuscinosis, neuronal, 5, 256731 (3), Autosomal recessive
ENSG00000102878	Cataract 5, multiple types, 116800 (3), Autosomal dominant
ENSG00000102879	Immunodeficiency 8, 615401 (3), Autosomal recessive
ENSG00000102893	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3), Autosomal recessive
ENSG00000102900	Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive
ENSG00000102931	Retinitis pigmentosa with or without situs inversus, 615434 (3), Autosomal recessive
ENSG00000102935	Joubert syndrome 19, 614844 (3), Autosomal recessive, Autosomal dominant; Nephronophthisis 14, 614844 (3), Autosomal recessive, Autosomal dominant
ENSG00000102967	Miller syndrome, 263750 (3), Autosomal recessive
ENSG00000102974	Mental retardation, autosomal dominant 21, 615502 (3), Autosomal dominant
ENSG00000102977	?Dyskeratosis congenita, autosomal dominant 6, 616553 (3), Autosomal recessive, Autosomal dominant; ?Dyskeratosis congenita, autosomal recessive 7, 616553 (3), Autosomal recessive, Autosomal dominant
ENSG00000103005	Poikiloderma with neutropenia, 604173 (3), Autosomal recessive
ENSG00000103043	Striatonigral degeneration, childhood-onset, 617054 (3), Autosomal recessive
ENSG00000103051	Congenital disorder of glycosylation, type IIj, 613489 (3), Autosomal recessive; Saul-Wilson syndrome, 618150 (3)
ENSG00000103089	Spastic paraplegia 35, autosomal recessive, 612319 (3), Autosomal recessive
ENSG00000103126	?Caudal duplication anomaly, 607864 (3); Hepatocellular carcinoma, somatic, 114550 (3)
ENSG00000103148	Epilepsy, familial focal, with variable foci 3, 617118 (3), Autosomal dominant
ENSG00000103150	Malonyl-CoA decarboxylase deficiency, 248360 (3), Autosomal recessive
ENSG00000103197	?Focal cortical dysplasia, type II, somatic, 607341 (3); Lymphangioleiomyomatosis, somatic, 606690 (3); Tuberous sclerosis-2, 613254 (3), Autosomal dominant
ENSG00000103227	Lipase deficiency, combined, 246650 (3), Autosomal recessive
ENSG00000103241	Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3), Autosomal dominant
ENSG00000103249	Osteopetrosis, autosomal dominant 2, 166600 (3), Autosomal dominant; Osteopetrosis, autosomal recessive 4, 611490 (3), Autosomal recessive
ENSG00000103264	?Mental retardation, autosomal recessive 45, 615979 (3), Autosomal recessive
ENSG00000103266	Spinocerebellar ataxia, autosomal recessive 16, 615768 (3), Autosomal recessive
ENSG00000103313	Familial Mediterranean fever, AD, 134610 (3), Autosomal dominant; Familial Mediterranean fever, AR, 249100 (3), Autosomal recessive
ENSG00000103316	Deafness, autosomal dominant 40, 616357 (3), Autosomal dominant
ENSG00000103335	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3), Autosomal dominant; Lymphedema, hereditary, III, 616843 (3), Autosomal recessive
ENSG00000103356	Combined oxidative phosphorylation deficiency 12, 614924 (3), Autosomal recessive
ENSG00000103449	Townes-Brocks branchiootorenal-like syndrome, 107480 (3), Autosomal dominant; Townes-Brocks syndrome 1, 107480 (3), Autosomal dominant
ENSG00000103489	Desbuquois dysplasia 2, 615777 (3), Autosomal recessive; {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3), Autosomal recessive
ENSG00000103494	COACH syndrome, 216360 (3), Autosomal recessive; Joubert syndrome 7, 611560 (3), Autosomal recessive; Meckel syndrome 5, 611561 (3), Autosomal recessive
ENSG00000103507	Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)
ENSG00000103522	[IgE, elevated level of], 147050 (3), Autosomal dominant; Immunodeficiency 56, 615207 (3), Autosomal recessive
ENSG00000103546	Orthostatic intolerance, 604715 (3)
ENSG00000103591	Keratoderma, palmoplantar, punctate type IA, 148600 (3), Autosomal dominant
ENSG00000103657	Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3), Autosomal recessive
ENSG00000103671	?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3), Autosomal recessive; Spinal muscular atrophy with congenital bone fractures 1, 616866 (3), Autosomal recessive
ENSG00000103707	Combined oxidative phosphorylation deficiency 15, 614947 (3), Autosomal recessive
ENSG00000103723	Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive
ENSG00000103876	Tyrosinemia, type I, 276700 (3), Autosomal recessive
ENSG00000103942	?Deafness, autosomal dominant 68, 616707 (3), Autosomal dominant
ENSG00000103995	Microcephaly 9, primary, autosomal recessive, 614852 (3), Autosomal recessive; Seckel syndrome 5, 613823 (3), Autosomal recessive
ENSG00000104044	Albinism, brown oculocutaneous, 203200 (3), Autosomal recessive; Albinism, oculocutaneous, type II, 203200 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3), Autosomal recessive
ENSG00000104055	Peeling skin syndrome 2, 609796 (3), Autosomal recessive
ENSG00000104093	?Deafness, autosomal dominant 71, 617605 (3), Autosomal dominant; ?Polyendocrine-polyneuropathy syndrome, 616113 (3), Autosomal recessive
ENSG00000104133	Amyotrophic lateral sclerosis 5, juvenile, 602099 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3), Autosomal recessive; Spastic paraplegia 11, autosomal recessive, 604360 (3), Autosomal recessive
ENSG00000104164	?Hermansky-pudlak syndrome 9, 614171 (3), Autosomal recessive
ENSG00000104213	Colorectal cancer, somatic, 114500 (3); Hepatocellular cancer, somatic, 114550 (3)
ENSG00000104218	Joubert syndrome 21, 615636 (3), Autosomal recessive
ENSG00000104237	Retinitis pigmentosa 1, 180100 (3), Autosomal recessive, Autosomal dominant
ENSG00000104267	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3), Autosomal recessive
ENSG00000104313	Anterior segment anomalies with or without cataract, 602588 (3), Autosomal dominant; Branchiootic syndrome 1, 602588 (3), Autosomal dominant; Branchiootorenal syndrome 1, with or without cataracts, 113650 (3), Autosomal dominant; ?Otofaciocervical syndrome, 166780 (3), Autosomal dominant
ENSG00000104320	Aplastic anemia, 609135 (3); Leukemia, acute lymphoblastic, 613065 (3); Nijmegen breakage syndrome, 251260 (3), Autosomal recessive
ENSG00000104321	?Episodic pain syndrome, familial, 1, 615040 (3), Autosomal dominant
ENSG00000104331	Chondrodysplasia with joint dislocations, GPAPP type, 614078 (3), Autosomal recessive
ENSG00000104356	Anauxetic dysplasia 2, 617396 (3), Autosomal recessive
ENSG00000104365	Immunodeficiency 15, 615592 (3), Autosomal recessive
ENSG00000104369	?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, 607831 (3), Autosomal recessive, Autosomal dominant
ENSG00000104381	Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3), Autosomal recessive; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3), Autosomal recessive; Charcot-Marie-Tooth disease, type 4A, 214400 (3), Autosomal recessive
ENSG00000104413	?Deafness, autosomal recessive 109, 618013 (3), Autosomal recessive
ENSG00000104419	Charcot-Marie-Tooth disease, type 4D, 601455 (3), Autosomal recessive
ENSG00000104447	Trichorhinophalangeal syndrome, type I, 190350 (3), Autosomal dominant; Trichorhinophalangeal syndrome, type III, 190351 (3), Autosomal dominant
ENSG00000104450	Ciliary dyskinesia, primary, 28, 615505 (3), Autosomal recessive
ENSG00000104635	Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive; ?Hyperostosis cranalis interna, 144755 (3), Autosomal dominant
ENSG00000104723	Mental retardation, autosomal recessive 7, 611093 (3), Autosomal recessive
ENSG00000104728	?Slowed nerve conduction velocity, AD, 608236 (3), Autosomal dominant
ENSG00000104738	Immunodeficiency 54, 609981 (3), Autosomal recessive
ENSG00000104763	Farber lipogranulomatosis, 228000 (3), Autosomal recessive; Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3), Autosomal recessive
ENSG00000104774	Mannosidosis, alpha-, types I and II, 248500 (3), Autosomal recessive
ENSG00000104783	Dehydrated hereditary stomatocytosis 2, 616689 (3), Autosomal dominant
ENSG00000104812	Glycogen storage disease 0, muscle, 611556 (3), Autosomal recessive
ENSG00000104826	Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3), Autosomal recessive
ENSG00000104833	Dystonia 4, torsion, autosomal dominant, 128101 (3), Autosomal dominant; Leukodystrophy, hypomyelinating, 6, 612438 (3), Autosomal dominant
ENSG00000104835	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3), Autosomal recessive
ENSG00000104856	?Immunodeficiency 53, 617585 (3), Autosomal recessive
ENSG00000104880	Retinitis pigmentosa 78, 617433 (3), Autosomal recessive
ENSG00000104884	?Cerebrooculofacioskeletal syndrome 2, 610756 (3), Autosomal recessive; Trichothiodystrophy 1, photosensitive, 601675 (3), Autosomal recessive; Xeroderma pigmentosum, group D, 278730 (3), Autosomal recessive
ENSG00000104889	Aicardi-Goutieres syndrome 4, 610333 (3), Autosomal recessive
ENSG00000104899	Persistent Mullerian duct syndrome, type I, 261550 (3), Autosomal recessive
ENSG00000104918	{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant; {Hypertension, insulin resistance-related, susceptibility to}, 125853 (3), Autosomal dominant
ENSG00000104936	Myotonic dystrophy 1, 160900 (3), Autosomal dominant
ENSG00000104953	Preimplantation embryonic lethality, 616814 (3), Autosomal recessive
ENSG00000104973	Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3), Autosomal recessive; ?Charcot-Marie-Tooth disease, type 2B2, 605589 (3), Autosomal recessive
ENSG00000105048	Nemaline myopathy 5, Amish type, 605355 (3), Autosomal recessive
ENSG00000105141	Ichthyosis, congenital, autosomal recessive 12, 617320 (3), Autosomal recessive
ENSG00000105146	Spermatogenic failure 5, 243060 (3), Autosomal recessive
ENSG00000105197	3-methylglutaconic aciduria, type IX, 617698 (3), Autosomal recessive
ENSG00000105204	Abdominal obesity-metabolic syndrome 3, 615812 (3), Autosomal dominant
ENSG00000105220	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3), Autosomal recessive
ENSG00000105221	Diabetes mellitus, type II, 125853 (3), Autosomal dominant; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3), Autosomal dominant
ENSG00000105223	?Spinocerebellar ataxia 46, 617770 (3), Autosomal dominant
ENSG00000105227	Charcot-Marie-Tooth disease, type 4F, 614895 (3), Autosomal recessive; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant
ENSG00000105270	
ENSG00000105329	Camurati-Engelmann disease, 131300 (3), Autosomal dominant; {Cystic fibrosis lung disease, modifier of}, 219700 (3), Autosomal recessive
ENSG00000105357	Deafness, autosomal dominant 4A, 600652 (3), Autosomal dominant; ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3), Autosomal dominant
ENSG00000105369	Agammaglobulinemia 3, 613501 (3), Autosomal recessive
ENSG00000105370	Cataract 19, multiple types, 615277 (3), Autosomal recessive
ENSG00000105371	[Blood group, Landsteiner-Wiener], 111250 (3)
ENSG00000105372	Diamond-Blackfan anemia 1, 105650 (3), Autosomal dominant
ENSG00000105379	Glutaric acidemia IIB, 231680 (3), Autosomal recessive
ENSG00000105392	Cone-rod retinal dystrophy-2, 120970 (3), Autosomal dominant; Leber congenital amaurosis 7, 613829 (3)
ENSG00000105397	Immunodeficiency 35, 611521 (3), Autosomal recessive
ENSG00000105409	Alternating hemiplegia of childhood 2, 614820 (3), Autosomal dominant; CAPOS syndrome, 601338 (3), Autosomal dominant; Dystonia-12, 128235 (3), Autosomal dominant
ENSG00000105429	Carpenter syndrome 2, 614976 (3), Autosomal recessive
ENSG00000105464	Epileptic encephalopathy, early infantile, 46, 617162 (3), Autosomal dominant
ENSG00000105479	Ciliary dyskinesia, primary, 20, 615067 (3), Autosomal recessive
ENSG00000105568	Mental retardation, autosomal dominant 36, 616362 (3), Autosomal dominant
ENSG00000105607	Glutaricaciduria, type I, 231670 (3), Autosomal recessive
ENSG00000105610	Blood group--Lutheran inhibitor, 111150 (3); Dyserythropoietic anemia, congenital, type IV, 613673 (3), Autosomal dominant; [Hereditary persistence of fetal hemoglobin], 613566 (3)
ENSG00000105618	Retinitis pigmentosa 11, 600138 (3), Autosomal dominant
ENSG00000105639	SCID, autosomal recessive, T-negative/B-positive type, 600802 (3), Autosomal recessive
ENSG00000105641	Thyroid dyshormonogenesis 1, 274400 (3), Autosomal recessive
ENSG00000105647	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3), Autosomal dominant
ENSG00000105662	Mucoepidermoid salivary gland carcinoma (3)
ENSG00000105664	Epiphyseal dysplasia, multiple, 1, 132400 (3), Autosomal dominant; Pseudoachondroplasia, 177170 (3), Autosomal dominant
ENSG00000105695	Spastic paraplegia 75, autosomal recessive, 616680 (3), Autosomal recessive
ENSG00000105697	Hemochromatosis, type 2B, 613313 (3), Autosomal recessive
ENSG00000105711	Atrial fibrillation, familial, 13, 615377 (3), Autosomal dominant; Brugada syndrome 5, 612838 (3); Cardiac conduction defect, nonspecific, 612838 (3); Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 52, 617350 (3), Autosomal recessive
ENSG00000105722	Chitayat syndrome, 617180 (3), Autosomal dominant; Craniosynostosis 4, 600775 (3), Autosomal dominant
ENSG00000105738	?Cataract 45, 616851 (3), Autosomal recessive
ENSG00000105755	Ethylmalonic encephalopathy, 602473 (3), Autosomal recessive
ENSG00000105771	Heart and brain malformation syndrome, 616920 (3), Autosomal recessive
ENSG00000105792	Spermatogenic failure 24, 617959 (3), Autosomal recessive
ENSG00000105810	?Microcephaly 12, primary, autosomal recessive, 616080 (3), Autosomal recessive
ENSG00000105819	Multiple mitochondrial dysfunctions syndrome 6, 617954 (3), Autosomal recessive
ENSG00000105854	{Coronary artery disease, susceptibility to} (3)
ENSG00000105877	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3), Autosomal recessive
ENSG00000105880	?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 (3), Autosomal recessive
ENSG00000105928	Deafness, autosomal dominant 5, 600994 (3), Autosomal dominant
ENSG00000105929	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
ENSG00000105974	?Lipodystrophy, congenital generalized, type 3, 612526 (3); ?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, 606721 (3), Autosomal dominant; Pulmonary hypertension, primary, 3, 615343 (3), Autosomal dominant
ENSG00000105976	?Deafness, autosomal recessive 97, 616705 (3), Autosomal recessive; Hepatocellular carcinoma, childhood type, somatic, 114550 (3); {Osteofibrous dysplasia, susceptibility to}, 607278 (3), Autosomal dominant; Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
ENSG00000105983	Acheiropody, 200500 (3), Autosomal recessive; Hypoplastic or aplastic tibia with polydactyly, 188740 (3), Autosomal dominant; Laurin-Sandrow syndrome, 135750 (3), Autosomal dominant; Polydactyly, preaxial type II, 174500 (3), Autosomal dominant; Syndactyly, type IV, 186200 (3), Autosomal dominant; Triphalangeal thumb, type I, 174500 (3), Autosomal dominant; Triphalangeal thumb-polysyndactyly syndrome, 174500 (3), Autosomal dominant
ENSG00000105991	Athabaskan brainstem dysgenesis syndrome, 601536 (3); Bosley-Salih-Alorainy syndrome, 601536 (3)
ENSG00000105993	Muscular dystrophy, limb-girdle, autosomal dominant 1, 603511 (3), Autosomal dominant
ENSG00000105996	Microtia with or without hearing impairment (AD), 612290 (3), Autosomal recessive, Autosomal dominant; ?Microtia, hearing impairment, and cleft palate (AR), 612290 (3), Autosomal recessive, Autosomal dominant
ENSG00000106003	?Spondylocostal dysostosis 3, autosomal recessive, 609813 (3)
ENSG00000106009	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3), Autosomal recessive; Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3), Autosomal recessive
ENSG00000106012	?Polydactyly, postaxial, type A7, 617642 (3), Autosomal recessive
ENSG00000106025	Exudative vitreoretinopathy 5, 613310 (3), Autosomal dominant
ENSG00000106031	Guttmacher syndrome, 176305 (3), Autosomal dominant; Hand-foot-uterus syndrome, 140000 (3), Autosomal dominant
ENSG00000106080	Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 (3), Autosomal recessive
ENSG00000106105	Charcot-Marie-Tooth disease, type 2D, 601472 (3), Autosomal dominant; Neuropathy, distal hereditary motor, type VA, 600794 (3), Autosomal dominant
ENSG00000106128	Growth hormone deficiency, isolated, type IB, 612781 (3)
ENSG00000106153	Parkinson disease 22, autosomal dominant, 616710 (3), Autosomal dominant
ENSG00000106211	Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3), Autosomal dominant; Neuropathy, distal hereditary motor, type IIB, 608634 (3), Autosomal dominant
ENSG00000106258	{Hypertension, salt-sensitive essential, susceptibility to}, 145500 (3), Multifactorial
ENSG00000106290	Alazami-Yuan syndrome, 617126 (3), Autosomal recessive
ENSG00000106305	Leukodystrophy, hypomyelinating, 17, 618006 (3), Autosomal recessive
ENSG00000106327	Hemochromatosis, type 3, 604250 (3), Autosomal recessive
ENSG00000106331	{Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3), Autosomal recessive, Autosomal dominant; Diabetes mellitus, type 2, 125853 (3), Autosomal dominant; Maturity-onset diabetes of the young, type IX, 612225 (3)
ENSG00000106341	{Hypercholesterolemia, susceptibility to}, 143890 (3), Autosomal dominant
ENSG00000106344	?Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3), Autosomal recessive
ENSG00000106348	Leber congenital amaurosis 11, 613837 (3); Retinitis pigmentosa 10, 180105 (3), Autosomal dominant
ENSG00000106366	Plasminogen activator inhibitor-1 deficiency, 613329 (3), Autosomal recessive, Autosomal dominant; {Transcription of plasminogen activator inhibitor, modulator of} (3)
ENSG00000106367	MEDNIK syndrome, 609313 (3), Autosomal recessive
ENSG00000106397	Lysyl hydroxylase 3 deficiency, 612394 (3), Autosomal recessive
ENSG00000106410	Premature ovarian failure 5, 611548 (3), Autosomal dominant
ENSG00000106415	{Glucocorticoid therapy, response to}, 614400 (3)
ENSG00000106460	Leukodystrophy, hypomyelinating, 16, 617964 (3), Autosomal dominant
ENSG00000106462	Weaver syndrome, 277590 (3), Autosomal dominant
ENSG00000106477	Joubert syndrome 15, 614464 (3), Autosomal recessive
ENSG00000106483	Pyle disease, 265900 (3), Autosomal recessive
ENSG00000106536	{Wilms tumor susceptibility-5}, 601583 (3), Autosomal dominant, Somatic mutation
ENSG00000106571	Greig cephalopolysyndactyly syndrome, 175700 (3), Autosomal dominant; {Hypothalamic hamartomas, somatic}, 241800 (3); Pallister-Hall syndrome, 146510 (3), Autosomal dominant; Polydactyly, postaxial, types A1 and B, 174200 (3), Autosomal dominant; Polydactyly, preaxial, type IV, 174700 (3), Autosomal dominant
ENSG00000106605	Hyperbiliverdinemia, 614156 (3), Autosomal recessive, Autosomal dominant
ENSG00000106617	Cardiomyopathy, hypertrophic 6, 600858 (3), Autosomal dominant; Glycogen storage disease of heart, lethal congenital, 261740 (3), Autosomal dominant; Wolff-Parkinson-White syndrome, 194200 (3), ?Autosomal dominant
ENSG00000106624	Ehlers-Danlos syndrome, classic-like, 2, 618000 (3), Autosomal recessive
ENSG00000106633	Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal, 606176 (3), Autosomal recessive, Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3), Autosomal dominant; MODY, type II, 125851 (3), Autosomal dominant
ENSG00000106688	Dicarboxylic aminoaciduria, 222730 (3), Autosomal recessive; {?Schizophrenia susceptibility 18}, 615232 (3)
ENSG00000106692	Cardiomyopathy, dilated, 1X, 611615 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3), Autosomal recessive
ENSG00000106799	Loeys-Dietz syndrome 1, 609192 (3), Autosomal dominant; {Multiple self-healing squamous epithelioma, susceptibility to}, 132800 (3), Autosomal dominant
ENSG00000106804	C5 deficiency, 609536 (3); [Eculizumab, poor response to], 615749 (3), Autosomal dominant
ENSG00000106819	{Lumbar disc degeneration}, 603932 (3); {Osteoarthritis susceptibility 3}, 607850 (3), Autosomal dominant
ENSG00000106976	Epileptic encephalopathy, early infantile, 31, 616346 (3), Autosomal dominant
ENSG00000106991	Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3), Autosomal dominant
ENSG00000106992	Hemolytic anemia due to adenylate kinase deficiency, 612631 (3), Autosomal recessive
ENSG00000107099	Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3), Autosomal recessive
ENSG00000107104	Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
ENSG00000107147	Epilepsy, nocturnal frontal lobe, 5, 615005 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 14, 614959 (3), Autosomal dominant
ENSG00000107165	Albinism, oculocutaneous, type III, 203290 (3), Autosomal recessive; [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3)
ENSG00000107186	Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3), Autosomal recessive
ENSG00000107187	Pituitary hormone deficiency, combined, 3, 221750 (3), Autosomal recessive
ENSG00000107201	Singleton-Merten syndrome 2, 616298 (3), Autosomal dominant
ENSG00000107249	Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3), Autosomal recessive
ENSG00000107290	Amyotrophic lateral sclerosis 4, juvenile, 602433 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 1, 606002 (3), Autosomal recessive
ENSG00000107371	Pontocerebellar hypoplasia, type 1B, 614678 (3), Autosomal recessive
ENSG00000107404	Robinow syndrome, autosomal dominant 2, 616331 (3), Autosomal dominant
ENSG00000107485	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3), Autosomal dominant
ENSG00000107521	Hermansky-Pudlak syndrome 1, 203300 (3), Autosomal recessive
ENSG00000107537	Refsum disease, 266500 (3), Autosomal recessive
ENSG00000107562	{AIDS, resistance to}, 609423 (3)
ENSG00000107566	Spastic paraplegia 62, 615681 (3), Autosomal recessive
ENSG00000107611	Megaloblastic anemia-1, Finnish type, 261100 (3), Autosomal recessive
ENSG00000107736	Deafness, autosomal recessive 12, 601386 (3), Autosomal recessive; {Pituitary adenoma 5, multiple types}, 617540 (3), Autosomal dominant; Usher syndrome, type 1D, 601067 (3), Autosomal recessive, Digenic recessive; Usher syndrome, type 1D/F digenic, 601067 (3), Autosomal recessive, Digenic recessive
ENSG00000107745	Myopathy with extrapyramidal signs, 615673 (3), Autosomal recessive
ENSG00000107779	Juvenile polyposis syndrome, infantile form, 174900 (3), Autosomal dominant; Polyposis syndrome, hereditary mixed, 2, 610069 (3); Polyposis, juvenile intestinal, 174900 (3), Autosomal dominant
ENSG00000107789	Thyroid carcinoma, follicular, 188470 (3), Autosomal dominant
ENSG00000107796	Aortic aneurysm, familial thoracic 6, 611788 (3), Autosomal dominant; Moyamoya disease 5, 614042 (3); Multisystemic smooth muscle dysfunction syndrome, 613834 (3), Autosomal dominant
ENSG00000107798	Cholesteryl ester storage disease, 278000 (3), Autosomal recessive; Wolman disease, 278000 (3), Autosomal recessive
ENSG00000107815	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3), Autosomal recessive; Perrault syndrome 5, 616138 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 (3), Autosomal dominant
ENSG00000107831	Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3), Autosomal dominant
ENSG00000107859	Anterior segment dysgenesis 1, multiple subtypes, 107250 (3), Autosomal dominant; Cataract 11, multiple types, 610623 (3), Autosomal dominant; Cataract 11, syndromic, 610623 (3), Autosomal dominant
ENSG00000107882	Basal cell nevus syndrome, 109400 (3), Autosomal dominant; Joubert syndrome 32, 617757 (3), Autosomal recessive; Medulloblastoma, desmoplastic, 155255 (3), Autosomal recessive, Autosomal dominant; {Meningioma, familial, susceptibility to}, 607174 (3), Autosomal dominant
ENSG00000107890	Thrombocytopenia 2, 188000 (3), Autosomal dominant
ENSG00000107951	?Spastic ataxia 4, autosomal recessive, 613672 (3), Autosomal recessive
ENSG00000107960	Cerebroretinal microangiopathy with calcifications and cysts 2, 617341 (3), Autosomal recessive
ENSG00000107968	Lung cancer, somatic, 211980 (3)
ENSG00000108001	Hypotonia, ataxia, and delayed development syndrome, 617330 (3), Autosomal dominant
ENSG00000108055	Cornelia de Lange syndrome 3, 610759 (3), Autosomal dominant
ENSG00000108061	Noonan-like syndrome with loose anagen hair, 607721 (3), Autosomal dominant
ENSG00000108064	?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 (3), Autosomal recessive
ENSG00000108176	Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3), Autosomal recessive
ENSG00000108231	Epilepsy, familial temporal lobe, 1, 600512 (3), Autosomal dominant
ENSG00000108255	Cataract 10, multiple types, 600881 (3), Autosomal dominant
ENSG00000108312	Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3), Autosomal dominant
ENSG00000108370	Bradyopsia, 608415 (3)
ENSG00000108375	Sessile serrated polyposis cancer syndrome, 617108 (3), Autosomal dominant
ENSG00000108379	?Tetra-amelia syndrome 1, 273395 (3), Autosomal recessive
ENSG00000108381	Canavan disease, 271900 (3), Autosomal recessive
ENSG00000108384	{Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 (3); Fanconi anemia, complementation group O, 613390 (3), Autosomal recessive
ENSG00000108395	Mulibrey nanism, 253250 (3), Autosomal recessive
ENSG00000108433	Epilepsy, progressive myoclonic 6, 614018 (3), Autosomal recessive
ENSG00000108439	Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3), Autosomal recessive
ENSG00000108474	CHIME syndrome, 280000 (3), Autosomal recessive
ENSG00000108479	Galactokinase deficiency with cataracts, 230200 (3), Autosomal recessive
ENSG00000108515	?Glycogen storage disease XIII, 612932 (3), Autosomal recessive
ENSG00000108518	Amyotrophic lateral sclerosis 18, 614808 (3)
ENSG00000108556	Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3), Autosomal recessive, Autosomal dominant; Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3), Autosomal recessive; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3), Autosomal recessive
ENSG00000108557	Smith-Magenis syndrome, 182290 (3), Autosomal dominant, Isolated cases
ENSG00000108561	Combined oxidative phosphorylation deficiency 33, 617713 (3), Autosomal recessive
ENSG00000108576	{Anxiety-related personality traits}, 607834 (3); {Obsessive-compulsive disorder}, 164230 (3), Autosomal dominant
ENSG00000108599	{Cardiac conduction defect, susceptibility to}, 115080 (3), Autosomal dominant
ENSG00000108604	Specific granule deficiency 2, 617475 (3), Autosomal recessive
ENSG00000108641	Joubert syndrome 27, 617120 (3), Autosomal recessive; ?Meckel syndrome 9, 614209 (3), Autosomal recessive
ENSG00000108691	{Coronary artery disease, modifier of} (3); {HIV-1, resistance to}, 609423 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3); {Spina bifida, susceptibility to}, 182940 (3), Autosomal dominant
ENSG00000108733	Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3), Autosomal recessive; Peroxisome biogenesis disorder 3B, 266510 (3), Autosomal recessive
ENSG00000108784	?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3), Autosomal dominant; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3), Autosomal recessive
ENSG00000108797	Lethal congenital contracture syndrome 7, 616286 (3), Autosomal recessive
ENSG00000108813	?Orofacial cleft 15, 616788 (3), Autosomal dominant
ENSG00000108821	{Bone mineral density variation QTL, osteoporosis}, 166710 (3), Autosomal dominant; Caffey disease, 114000 (3), Autosomal dominant; Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3), Autosomal dominant; Osteogenesis imperfecta, type I, 166200 (3), Autosomal dominant; Osteogenesis imperfecta, type II, 166210 (3), Autosomal dominant; Osteogenesis imperfecta, type III, 259420 (3), Autosomal dominant; Osteogenesis imperfecta, type IV, 166220 (3), Autosomal dominant
ENSG00000108823	Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 (3), Autosomal recessive
ENSG00000108883	Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3), Autosomal dominant
ENSG00000108946	Acrodysostosis 1, with or without hormone resistance, 101800 (3), Autosomal dominant; Adrenocortical tumor, somatic (3); Carney complex, type 1, 160980 (3), Autosomal dominant; Myxoma, intracardiac, 255960 (3), Autosomal dominant; Pigmented nodular adrenocortical disease, primary, 1, 610489 (3), Autosomal dominant
ENSG00000108950	Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3), Autosomal recessive
ENSG00000108963	Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3), Autosomal recessive
ENSG00000109062	Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3), Autosomal dominant
ENSG00000109063	Arthrogryposis, distal, type 2A, 193700 (3), Autosomal dominant; Arthrogryposis, distal, type 2B, 601680 (3), Autosomal dominant; Arthrogryposis, distal, type 8, 178110 (3), Autosomal dominant
ENSG00000109099	Charcot-Marie-Tooth disease, type 1A, 118220 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 1E, 118300 (3), Autosomal dominant; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; ?Neuropathy, inflammatory demyelinating, 139393 (3), ?Autosomal dominant; Neuropathy, recurrent, with pressure palsies, 162500 (3), Autosomal dominant; Roussy-Levy syndrome, 180800 (3), Autosomal dominant
ENSG00000109101	T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3), Autosomal recessive
ENSG00000109103	?Cone-rod dystrophy (3); ?Immunodeficiency 13, 615518 (3), Autosomal dominant
ENSG00000109132	Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3), Autosomal dominant; Neuroblastoma with Hirschsprung disease, 613013 (3); {Neuroblastoma, susceptibility to, 2}, 613013 (3)
ENSG00000109163	Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3), Autosomal recessive
ENSG00000109220	{Leukemia, acute myeloid}, 601626 (3), Autosomal dominant
ENSG00000109320	Immunodeficiency, common variable, 12, 616576 (3), Autosomal dominant
ENSG00000109323	Mannosidosis, beta, 248510 (3), Autosomal recessive
ENSG00000109424	{Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial
ENSG00000109458	?Deafness, autosomal recessive 26, 605428 (3), Autosomal recessive
ENSG00000109501	?Cataract 41, 116400 (3), Autosomal dominant; Deafness, autosomal dominant 6/14/38, 600965 (3), Autosomal dominant; {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3), Autosomal dominant; Wolfram syndrome 1, 222300 (3), Autosomal recessive; Wolfram-like syndrome, autosomal dominant, 614296 (3), Autosomal dominant
ENSG00000109610	[Superoxide dismutase, elevated extracellular] (3)
ENSG00000109618	Pontocerebellar hypoplasia type 2D, 613811 (3), Autosomal recessive
ENSG00000109654	Charcot-Marie-Tooth disease, type 2R, 615490 (3), Autosomal recessive
ENSG00000109667	Hypouricemia, renal, 2, 612076 (3), Autosomal recessive, Autosomal dominant; {Uric acid concentration, serum, QTL 2}, 612076 (3), Autosomal recessive, Autosomal dominant
ENSG00000109705	Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive
ENSG00000109738	Hyperekplexia 2, 614619 (3), Autosomal recessive
ENSG00000109756	?Epilepsy, familial adult myoclonic, 7, 618075 (3)
ENSG00000109775	?Hip dysplasia, Beukes type, 142669 (3), Autosomal dominant; ?Spondyloepimetaphyseal dysplasia, Di Rocco type, 617974 (3), Autosomal dominant
ENSG00000109846	Cardiomyopathy, dilated, 1II, 615184 (3), Autosomal dominant; Cataract 16, multiple types, 613763 (3), Autosomal recessive, Autosomal dominant; Myopathy, myofibrillar, 2, 608810 (3), Autosomal dominant; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 (3), Autosomal recessive
ENSG00000109861	Haim-Munk syndrome, 245010 (3), Autosomal recessive; Papillon-Lefevre syndrome, 245000 (3), Autosomal recessive; Periodontitis 1, juvenile, 170650 (3), Autosomal recessive
ENSG00000109906	Leukemia, acute promyelocytic, PL2F/RARA type (3); Skeletal defects, genital hypoplasia, and mental retardation, 612447 (3), Autosomal recessive
ENSG00000109911	?Aniridia 2, 617141 (3), Autosomal dominant
ENSG00000109927	Deafness, autosomal dominant 8/12, 601543 (3), Autosomal dominant; Deafness, autosomal recessive 21, 603629 (3), Autosomal recessive
ENSG00000109929	Lathosterolosis, 607330 (3), Autosomal recessive
ENSG00000110013	{Autoimmune disease, susceptibility to, 6}, 613551 (3)
ENSG00000110057	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
ENSG00000110060	?Mental retardation, autosomal recessive 55, 617051 (3), Autosomal recessive
ENSG00000110063	Al-Raqad syndrome, 616459 (3), Autosomal recessive
ENSG00000110066	Mental retardation, autosomal dominant 51, 617788 (3), Autosomal dominant
ENSG00000110074	Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000110090	CPT deficiency, hepatic, type IA, 255120 (3), Autosomal recessive
ENSG00000110092	{Colorectal cancer, susceptibility to}, 114500 (3), Autosomal dominant; {Multiple myeloma, susceptibility to}, 254500 (3), Somatic mutation; {von Hippel-Lindau syndrome, modifier of}, 193300 (3), Autosomal dominant
ENSG00000110195	Neurodegeneration due to cerebral folate transport deficiency, 613068 (3), Autosomal recessive
ENSG00000110243	Hyperchylomicronemia, late-onset, 144650 (3), Autosomal dominant; {Hypertriglyceridemia, susceptibility to}, 145750 (3), Autosomal dominant
ENSG00000110245	Apolipoprotein C-III deficiency, 614028 (3)
ENSG00000110274	Nephronophthisis 15, 614845 (3), Autosomal recessive
ENSG00000110324	Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3), Autosomal recessive
ENSG00000110395	?Juvenile myelomonocytic leukemia, 607785 (3), Autosomal dominant, Somatic mutation; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3), Autosomal dominant
ENSG00000110400	Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3), Autosomal recessive; Orofacial cleft 7, 225060 (3), Autosomal recessive
ENSG00000110435	Lacticacidemia due to PDX1 deficiency, 245349 (3), Autosomal recessive
ENSG00000110436	Epileptic encephalopathy, early infantile, 41, 617105 (3), Autosomal dominant
ENSG00000110628	Breast cancer, somatic, 114480 (3); Lung cancer, somatic, 211980 (3); Rhabdomyosarcoma, somatic, 268210 (3)
ENSG00000110651	Immunodeficiency, common variable, 6, 613496 (3), Autosomal recessive
ENSG00000110711	Pituitary adenoma 1, multiple types, 102200 (3), Autosomal dominant, Somatic mutation; Pituitary adenoma predisposition, 102000 (3), Autosomal dominant
ENSG00000110717	Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial
ENSG00000110719	Osteopetrosis, autosomal recessive 1, 259700 (3), Autosomal recessive
ENSG00000110723	Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3), Autosomal recessive
ENSG00000110756	Hermansky-Pudlak syndrome 5, 614074 (3), Autosomal recessive
ENSG00000110799	von Willebrand disease, type 1, 193400 (3), Autosomal dominant; von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3), Autosomal recessive, Autosomal dominant; von Willibrand disease, type 3, 277480 (3), Autosomal recessive
ENSG00000110911	Anemia, hypochromic microcytic, with iron overload 1, 206100 (3), Autosomal recessive
ENSG00000110921	Hyper-IgD syndrome, 260920 (3), Autosomal recessive; Mevalonic aciduria, 610377 (3), Autosomal recessive; Porokeratosis 3, multiple types, 175900 (3), Autosomal dominant
ENSG00000110987	B-cell non-Hodgkin lymphoma, high-grade (3)
ENSG00000111012	Vitamin D-dependent rickets, type I, 264700 (3), Autosomal recessive
ENSG00000111046	Centronuclear myopathy 3, 614408 (3), Autosomal dominant
ENSG00000111049	Ophthalmoplegia, external, with rib and vertebral anomalies, 618155 (3)
ENSG00000111057	Cirrhosis, cryptogenic, 215600 (3), Autosomal recessive; {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3), Autosomal recessive
ENSG00000111087	Polydactyly, postaxial, type A8, 618123 (3)
ENSG00000111199	?Avascular necrosis of femoral head, primary, 2, 617383 (3), Autosomal dominant; Brachyolmia type 3, 113500 (3), Autosomal dominant; Digital arthropathy-brachydactyly, familial, 606835 (3), Autosomal dominant; Hereditary motor and sensory neuropathy, type IIc, 606071 (3), Autosomal dominant; Metatropic dysplasia, 156530 (3), Autosomal dominant; Parastremmatic dwarfism, 168400 (3), Autosomal dominant; SED, Maroteaux type, 184095 (3), Autosomal dominant; Scapuloperoneal spinal muscular atrophy, 181405 (3), Autosomal dominant; [Sodium serum level QTL 1], 613508 (3); Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3), Autosomal dominant; Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3), Autosomal dominant
ENSG00000111245	Cardiomyopathy, hypertrophic, 10, 608758 (3), Autosomal dominant
ENSG00000111249	Epileptic encephalopathy, early infantile, 67, 618141 (3), Autosomal dominant
ENSG00000111252	Erythrocytosis, somatic, 133100 (3); Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3)
ENSG00000111262	Episodic ataxia/myokymia syndrome, 160120 (3), Autosomal dominant
ENSG00000111275	Alcohol sensitivity, acute, 610251 (3), Autosomal dominant; {Esophageal cancer, alcohol-related, susceptibility to} (3); {Hangover, susceptibility to}, 610251 (3), Autosomal dominant; {Sublingual nitroglycerin, susceptibility to poor response to} (3)
ENSG00000111276	Multiple endocrine neoplasia, type IV, 610755 (3), Autosomal dominant
ENSG00000111319	Bronchiectasis with or without elevated sweat chloride 2, 613021 (3), Autosomal dominant; ?Liddle syndrome 3, 618126 (3); Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive
ENSG00000111339	[Blood group, Dombrock], 616060 (3)
ENSG00000111341	Keutel syndrome, 245150 (3), Autosomal recessive
ENSG00000111361	Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive
ENSG00000111424	?Osteoporosis, involutional, 166710 (1), Autosomal dominant; Rickets, vitamin D-resistant, type IIA, 277440 (3), Autosomal recessive
ENSG00000111537	{AIDS, rapid progression to}, 609423 (3); {Aplastic anemia}, 609135 (3); {Hepatitis C virus, response to therapy of}, 609532 (3); {TSC2 angiomyolipomas, renal, modifier of}, 613254 (3), Autosomal dominant; {Tuberculosis, protection against}, 607948 (3)
ENSG00000111581	Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive; ?Ovarian dysgenesis 6, 618078 (3), Autosomal recessive
ENSG00000111642	Sifrim-Hitz-Weiss syndrome, 617159 (3), Autosomal dominant
ENSG00000111664	{Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial; Night blindness, congenital stationary, type 1H, 617024 (3), Autosomal recessive
ENSG00000111669	Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3), Autosomal recessive
ENSG00000111670	Mucolipidosis II alpha/beta, 252500 (3), Autosomal recessive; Mucolipidosis III alpha/beta, 252600 (3), Autosomal recessive
ENSG00000111676	Dentatorubro-pallidoluysian atrophy, 125370 (3), Autosomal dominant
ENSG00000111678	Temtamy syndrome, 218340 (3), Autosomal recessive
ENSG00000111700	Hyperbilirubinemia, Rotor type, digenic, 237450 (3), Digenic recessive
ENSG00000111713	Glycogen storage disease 0, liver, 240600 (3), Autosomal recessive
ENSG00000111716	[Lactate dehydrogenase-B deficiency], 614128 (3)
ENSG00000111732	Immunodeficiency with hyper-IgM, type 2, 605258 (3), Autosomal recessive
ENSG00000111752	?Microcephaly 11, primary, autosomal recessive, 615414 (3), Autosomal recessive
ENSG00000111775	Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3), Autosomal recessive
ENSG00000111799	Bethlem myopathy 2, 616471 (3), Autosomal dominant; ?Ullrich congenital muscular dystrophy 2, 616470 (3)
ENSG00000111802	Spinocerebellar ataxia, autosomal recessive 23, 616949 (3), Autosomal recessive
ENSG00000111817	Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3), Autosomal recessive
ENSG00000111834	Ciliary dyskinesia, primary, 11, 612649 (3)
ENSG00000111837	Retinitis pigmentosa 62, 614181 (3), Autosomal recessive
ENSG00000111846	Adult i phenotype without cataract, 110800 (3), Autosomal dominant; [Blood group, Ii], 110800 (3), Autosomal dominant; Cataract 13 with adult i phenotype, 116700 (3), Autosomal recessive
ENSG00000111877	Ovarian dysgenesis 4, 616185 (3), Autosomal recessive
ENSG00000111913	?Deafness, autosomal recessive 104, 616515 (3), Autosomal recessive
ENSG00000112039	Fanconi anemia, complementation group E, 600901 (3), Autosomal recessive
ENSG00000112041	Leber congenital amaurosis 15, 613843 (3), Autosomal recessive; Retinitis pigmentosa 14, 600132 (3), Autosomal recessive
ENSG00000112053	Spermatogenic failure 3, 606766 (3), Autosomal dominant
ENSG00000112077	Anemia, hemolytic, Rh-null, regulator type, 268150 (3), Autosomal dominant; Overhydrated hereditary stomatocytosis, 185000 (3), Autosomal dominant
ENSG00000112096	{Microvascular complications of diabetes 6}, 612634 (3)
ENSG00000112116	?Candidiasis, familial, 6, autosomal dominant, 613956 (3)
ENSG00000112144	Endocrine-cerebroosteodysplasia, 612651 (3), Autosomal recessive; {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3), Autosomal dominant
ENSG00000112210	Carpenter syndrome, 201000 (3), Autosomal recessive
ENSG00000112234	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3), Autosomal recessive
ENSG00000112246	Obesity, severe, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial
ENSG00000112276	?Cardiac arrhythmia with increased serum creatine kinase, 616812 (3), Autosomal recessive
ENSG00000112280	?Epiphyseal dysplasia, multiple, 6, 614135 (3), Autosomal dominant; Stickler syndrome, type IV, 614134 (3)
ENSG00000112282	Mental retardation, autosomal recessive 18, 614249 (3), Autosomal recessive
ENSG00000112294	Succinic semialdehyde dehydrogenase deficiency, 271980 (3), Autosomal recessive
ENSG00000112299	[High density lipoprotein cholesterol level QTL 8] (3)
ENSG00000112312	Meier-Gorlin syndrome 6, 616835 (3), Autosomal dominant
ENSG00000112319	?Cardiomyopathy, dilated, 1J, 605362 (3), Autosomal dominant; Deafness, autosomal dominant 10, 601316 (3), Autosomal dominant
ENSG00000112320	Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3), Autosomal recessive
ENSG00000112357	Peroxisome biogenesis disorder 9B, 614879 (3), Autosomal recessive; Rhizomelic chondrodysplasia punctata, type 1, 215100 (3), Autosomal recessive
ENSG00000112365	Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 (3), Autosomal recessive
ENSG00000112367	Amyotrophic lateral sclerosis 11, 612577 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 4J, 611228 (3), Autosomal recessive; ?Polymicrogyria, bilateral temporooccipital, 612691 (3), Autosomal recessive; Yunis-Varon syndrome, 216340 (3), Autosomal recessive
ENSG00000112414	Lethal congenital contracture syndrome 9, 616503 (3), Autosomal recessive
ENSG00000112425	Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3), Autosomal recessive
ENSG00000112541	Dyskinesia, limb and orofacial, infantile-onset, 616921 (3), Autosomal recessive; Striatal degeneration, autosomal dominant, 616922 (3), Autosomal dominant
ENSG00000112562	Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3), Autosomal recessive
ENSG00000112592	{Parkinson disease, susceptibility to}, 168600 (3), Isolated cases, Multifactorial; Spinocerebellar ataxia 17, 607136 (3), Autosomal dominant
ENSG00000112599	Retinitis pigmentosa 48, 613827 (3)
ENSG00000112619	Choroidal dystrophy, central areolar 2, 613105 (3), Autosomal dominant; Leber congenital amaurosis 18, 608133 (3), Autosomal recessive, Autosomal dominant; Macular dystrophy, patterned, 1, 169150 (3), Autosomal dominant; Macular dystrophy, vitelliform, 3, 608161 (3), Autosomal dominant; Retinitis pigmentosa 7 and digenic form, 608133 (3), Autosomal recessive, Autosomal dominant; Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant
ENSG00000112640	Mental retardation, autosomal dominant 35, 616355 (3), Autosomal dominant
ENSG00000112706	Macular dystrophy, vitelliform, 4, 616151 (3), Autosomal dominant
ENSG00000112715	{Microvascular complications of diabetes 1}, 603933 (3)
ENSG00000112761	Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3), Autosomal recessive; Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3), Autosomal recessive
ENSG00000112769	Cardiomyopathy, dilated, 1JJ, 615235 (3), Autosomal dominant
ENSG00000112773	Osteogenesis imperfecta, type XVIII, 617952 (3), Autosomal recessive
ENSG00000112782	?Deafness, autosomal recessive 103, 616042 (3), Autosomal recessive
ENSG00000112837	Congenital anomalies of kidney and urinary tract 2, 143400 (3), Autosomal dominant
ENSG00000112855	?Perrault syndrome 2, 614926 (3), Autosomal recessive
ENSG00000112936	C7 deficiency, 610102 (3)
ENSG00000112964	Growth hormone insensitivity, partial, 604271 (3); {Hypercholesterolemia, familial, modifier of}, 143890 (3), Autosomal dominant; Increased responsiveness to growth hormone, 604271 (3); Laron dwarfism, 262500 (3), Autosomal recessive
ENSG00000112992	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3), Autosomal recessive
ENSG00000113013	Anemia, sideroblastic, 4, 182170 (3), Autosomal dominant; Even-plus syndrome, 616854 (3), Autosomal recessive
ENSG00000113083	Aortic aneurysm, familial thoracic 10, 617168 (3), Autosomal dominant
ENSG00000113140	Osteogenesis imperfecta, type XVII, 616507 (3), Autosomal recessive
ENSG00000113161	[Low density lipoprotein cholesterol level QTL 3] (3); [Statins, attenuated cholesterol lowering by] (3)
ENSG00000113163	Mental retardation, autosomal dominant 34, 616351 (3), Autosomal dominant
ENSG00000113231	Pigmented nodular adrenocortical disease, primary, 3, 614190 (3); Striatal degeneration, autosomal dominant, 609161 (3), Autosomal dominant
ENSG00000113262	Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3), Autosomal recessive
ENSG00000113263	Lymphoproliferative syndrome 1, 613011 (3), Autosomal recessive
ENSG00000113273	Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3), Autosomal recessive
ENSG00000113302	Immunodeficiency 29, mycobacteriosis, 614890 (3), Autosomal recessive
ENSG00000113318	Endometrial carcinoma, somatic, 608089 (3); Familial adenomatous polyposis 4, 617100 (3), Autosomal recessive
ENSG00000113327	{Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3), Autosomal dominant; Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3), Autosomal dominant; Febrile seizures, familial, 8, 611277 (3), Autosomal dominant
ENSG00000113368	Leukodystrophy, adult-onset, autosomal dominant, 169500 (3), Autosomal dominant
ENSG00000113448	Acrodysostosis 2, with or without hormone resistance, 614613 (3), Autosomal dominant; {Stroke, susceptibility to, 1}, 606799 (3)
ENSG00000113492	[Beta-aminoisobutyric acid, urinary excretion of], 210100 (3), Autosomal recessive
ENSG00000113494	?Hyperprolactinemia, 615555 (3), Autosomal dominant; Multiple fibroadenomas of the breast, 615554 (3), Autosomal dominant
ENSG00000113522	Nijmegen breakage syndrome-like disorder, 613078 (3)
ENSG00000113555	Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive
ENSG00000113569	?Atrial fibrillation 15, 615770 (3), Autosomal recessive
ENSG00000113580	Glucocorticoid resistance, 615962 (3), Autosomal dominant
ENSG00000113594	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3), Autosomal recessive
ENSG00000113600	C9 deficiency, 613825 (3); {Macular degeneration, age-related, 15, susceptibility to}, 615591 (3)
ENSG00000113643	Leukodystrophy, hypomyelinating, 9, 616140 (3), Autosomal recessive
ENSG00000113645	[Memory, enhanced, QTL], 615602 (3)
ENSG00000113719	?Arthrogryposis multiplex congenita, neurogenic type, 208100 (3), Autosomal recessive
ENSG00000113721	Basal ganglia calcification, idiopathic, 4, 615007 (3), Autosomal dominant; Kosaki overgrowth syndrome, 616592 (3), Autosomal dominant; Myeloproliferative disorder with eosinophilia, 131440 (4), Autosomal dominant; Myofibromatosis, infantile, 1, 228550 (3), Autosomal dominant; Premature aging syndrome, Penttinen type, 601812 (3), Autosomal dominant
ENSG00000113790	?Fanconi renotubular syndrome 3, 615605 (3), Autosomal dominant
ENSG00000113845	Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000113851	Mental retardation, autosomal recessive 2, 607417 (3), Autosomal recessive
ENSG00000113889	[High molecular weight kininogen deficiency], 228960 (3), Autosomal recessive; [Kininogen deficiency], 228960 (3), Autosomal recessive
ENSG00000113905	Thrombophilia due to HRG deficiency, 613116 (3), Autosomal dominant; Thrombophilia due to elevated HRG, 613116 (1), Autosomal dominant
ENSG00000113924	Alkaptonuria, 203500 (3), Autosomal recessive
ENSG00000113946	Hypomagnesemia 3, renal, 248250 (3), Autosomal recessive
ENSG00000113966	{Bardet-Biedl syndrome 1, modifier of}, 209900 (3), Autosomal recessive, Digenic recessive; Bardet-Biedl syndrome 3, 600151 (3), Autosomal recessive; ?Retinitis pigmentosa 55, 613575 (3)
ENSG00000113971	Meckel syndrome 7, 267010 (3), Autosomal recessive; Nephronophthisis 3, 604387 (3), Autosomal recessive; Renal-hepatic-pancreatic dysplasia 1, 208540 (3), Autosomal recessive
ENSG00000114026	Renal cell carcinoma, clear cell, somatic, 144700 (3)
ENSG00000114054	Propionicacidemia, 606054 (3), Autosomal recessive
ENSG00000114062	Angelman syndrome, 105830 (3), Isolated cases
ENSG00000114200	{Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}, 617936 (3); Butyrylcholinesterase deficiency, 617936 (3)
ENSG00000114209	Cerebral cavernous malformations 3, 603285 (3)
ENSG00000114251	Robinow syndrome, autosomal dominant 1, 180700 (3), Autosomal dominant
ENSG00000114270	EBD inversa, 226600 (3), Autosomal recessive; EBD, Bart type, 132000 (3), Autosomal dominant; EBD, localisata variant (3); Epidermolysis bullosa dystrophica, AD, 131750 (3), Autosomal dominant; Epidermolysis bullosa dystrophica, AR, 226600 (3), Autosomal recessive; Epidermolysis bullosa pruriginosa, 604129 (3), Autosomal recessive, Autosomal dominant; Epidermolysis bullosa, pretibial, 131850 (3), Autosomal recessive, Autosomal dominant; Toenail dystrophy, isolated, 607523 (3), Autosomal dominant; Transient bullous of the newborn, 131705 (3), Autosomal recessive, Autosomal dominant
ENSG00000114279	Epileptic encephalopathy, early infantile, 47, 617166 (3), Autosomal dominant
ENSG00000114349	Night blindness, congenital stationary, autosomal dominant 3, 610444 (3), Autosomal dominant; Night blindness, congenital stationary, type 1G, 616389 (3), Autosomal recessive
ENSG00000114353	Pituitary ACTH-secreting adenoma (3); Ventricular tachycardia, idiopathic, 192605 (3), Autosomal dominant
ENSG00000114354	Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3), Autosomal dominant; ?Spastic paraplegia 57, autosomal recessive, 615658 (3), Autosomal recessive
ENSG00000114374	Spermatogenic failure, Y-linked, 2, 415000 (3), Y-linked
ENSG00000114378	?Mucopolysaccharidosis type IX, 601492 (3), Autosomal recessive
ENSG00000114388	Epilepsy, familial focal, with variable foci 2, 617116 (3), Autosomal dominant
ENSG00000114446	?Orofaciodigital syndrome XVIII, 617927 (3), Autosomal recessive
ENSG00000114450	Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3), Autosomal dominant
ENSG00000114480	Glycogen storage disease IV, 232500 (3), Autosomal recessive; Polyglucosan body disease, adult form, 263570 (3), Autosomal recessive
ENSG00000114491	Orotic aciduria, 258900 (3), Autosomal recessive
ENSG00000114573	Cutis laxa, autosomal recessive, type IID, 617403 (3), Autosomal recessive; Epileptic encephalopathy, infantile or early childhood, 3, 618012 (3), Autosomal dominant
ENSG00000114686	Combined oxidative phosphorylation deficiency 9, 614582 (3), Autosomal recessive
ENSG00000114737	{Bacteremia, susceptibility to}, 614383 (3); {Malaria, susceptibility to}, 611162 (3); {Tuberculosis, susceptibility to}, 607948 (3)
ENSG00000114738	?Macular dystrophy, patterned, 3, 617111 (3), Autosomal dominant
ENSG00000114739	Heterotaxy, visceral, 4, autosomal, 613751 (3)
ENSG00000114796	Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294 (3), Autosomal dominant
ENSG00000114841	?Ciliary dyskinesia, primary, 37, 617577 (3), Autosomal recessive; Spermatogenic failure 18, 617576 (3), Autosomal recessive
ENSG00000114854	Cardiomyopathy, dilated, 1Z, 611879 (3); Cardiomyopathy, hypertrophic, 13, 613243 (3), Autosomal dominant
ENSG00000114859	{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3), Autosomal dominant; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3), Autosomal dominant; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3), Autosomal dominant; Hyperaldosteronism, familial, type II, 605635 (3), Autosomal dominant; Leukoencephalopathy with ataxia, 615651 (3), Autosomal recessive
ENSG00000114861	Mental retardation with language impairment and with or without autistic features, 613670 (3), Autosomal dominant
ENSG00000114867	{Parkinson disease 18}, 614251 (3), Autosomal dominant
ENSG00000114956	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3), Autosomal recessive; Portal hypertension, noncirrhotic, 617068 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3), Autosomal recessive
ENSG00000114988	?Mental retardation, autosomal recessive, 52, 616887 (3), Autosomal recessive
ENSG00000115020	Corneal fleck dystrophy, 121850 (3), Autosomal dominant
ENSG00000115085	Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3), Autosomal recessive; Immunodeficiency 48, 269840 (3), Autosomal recessive
ENSG00000115107	?Anemia, hypochromic microcytic, with iron overload 2, 615234 (3), Autosomal dominant
ENSG00000115138	Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3), Autosomal recessive; {Obesity, early-onset, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial
ENSG00000115155	Auditory neuropathy, autosomal recessive, 1, 601071 (3), Autosomal recessive; Deafness, autosomal recessive 9, 601071 (3), Autosomal recessive
ENSG00000115159	{Diabetes, type 2, susceptibility to}, 125853 (3), Autosomal dominant
ENSG00000115170	Fibrodysplasia ossificans progressiva, 135100 (3), Autosomal dominant
ENSG00000115204	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3), Autosomal recessive
ENSG00000115211	Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive; Ovarioleukodystrophy, 603896 (3), Autosomal recessive
ENSG00000115221	Amelogenesis imperfecta, type IH, 616221 (3), Autosomal recessive
ENSG00000115255	Retinitis pigmentosa 77, 617304 (3), Autosomal recessive
ENSG00000115266	?Sotos syndrome 3, 617169 (3), Autosomal recessive
ENSG00000115267	Aicardi-Goutieres syndrome 7, 615846 (3), Autosomal dominant; Singleton-Merten syndrome 1, 182250 (3), Autosomal dominant
ENSG00000115275	Congenital disorder of glycosylation, type IIb, 606056 (3), Autosomal recessive
ENSG00000115286	Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial
ENSG00000115317	3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive; {Parkinson disease 13}, 610297 (3)
ENSG00000115339	Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 (3), Autosomal recessive
ENSG00000115355	?PEHO syndrome-like, 617507 (3), Autosomal recessive
ENSG00000115380	Doyne honeycomb degeneration of retina, 126600 (3), Autosomal dominant
ENSG00000115392	Fanconi anemia, complementation group L, 614083 (3), Autosomal recessive
ENSG00000115414	Glomerulopathy with fibronectin deposits 2, 601894 (3), Autosomal dominant; Plasma fibronectin deficiency, 614101 (1), Autosomal dominant; Spondylometaphyseal dysplasia, corner fracture type, 184255 (3), Autosomal dominant
ENSG00000115415	Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3), Autosomal dominant; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3), Autosomal recessive; Immunodeficiency 31C, autosomal dominant, 614162 (3), Autosomal dominant
ENSG00000115459	?Deafness, autosomal recessive 88, 615429 (3), Autosomal recessive
ENSG00000115474	Leber congenital amaurosis 16, 614186 (3), Autosomal recessive; Snowflake vitreoretinal degeneration, 193230 (3), Autosomal dominant
ENSG00000115486	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3); Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3), Autosomal recessive
ENSG00000115504	{Prostate cancer, hereditary, 12}, 611868 (3)
ENSG00000115524	Myelodysplastic syndrome, somatic, 614286 (3)
ENSG00000115525	Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive
ENSG00000115648	Griscelli syndrome, type 3, 609227 (3), Autosomal recessive
ENSG00000115657	[Blood group, Langereis system], 111600 (3); Dyschromatosis universalis hereditaria 3, 615402 (3), Autosomal dominant; Microphthalmia, isolated, with coloboma 7, 614497 (3), Autosomal dominant; Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 (3), Autosomal dominant
ENSG00000115665	Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive; Neuronopathy, distal hereditary motor, type VIIA, 158580 (3), Autosomal dominant
ENSG00000115705	Thyroid dyshormonogenesis 2A, 274500 (3), Autosomal recessive
ENSG00000115718	Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3), Autosomal dominant; Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3), Autosomal recessive
ENSG00000115758	{Colonic adenoma recurrence, reduced risk of}, 114500 (3), Autosomal dominant
ENSG00000115827	Woodhouse-Sakati syndrome, 241080 (3), Autosomal recessive
ENSG00000115839	Warburg micro syndrome 1, 600118 (3), Autosomal recessive
ENSG00000115840	Epileptic encephalopathy, early infantile, 39, 612949 (3), Autosomal recessive
ENSG00000115850	Lactase deficiency, congenital, 223000 (3), Autosomal recessive
ENSG00000115866	Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3), Autosomal recessive
ENSG00000115902	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3), Autosomal recessive
ENSG00000115904	?Fibromatosis, gingival, 1, 135300 (3), Autosomal dominant; Noonan syndrome 4, 610733 (3), Autosomal dominant
ENSG00000115919	?Hydroxykynureninuria, 236800 (3), Autosomal recessive; Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 (3), Autosomal recessive
ENSG00000115935	?Wiskott-Aldrich syndrome 2, 614493 (3)
ENSG00000115947	Meier-Gorlin syndrome 2, 613800 (3), Autosomal recessive
ENSG00000116001	Welander distal myopathy, 604454 (3), Autosomal recessive, Autosomal dominant
ENSG00000116014	Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3), Autosomal recessive; ?Precocious puberty, central, 1, 176400 (3), Autosomal dominant
ENSG00000116016	Erythrocytosis, familial, 4, 611783 (3)
ENSG00000116030	?Orofacial cleft 10, 613705 (3), Isolated cases
ENSG00000116031	[?Birbeck granule deficiency], 613393 (3)
ENSG00000116039	Renal tubular acidosis with deafness, 267300 (3), Autosomal recessive
ENSG00000116044	Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744 (3), Autosomal dominant
ENSG00000116062	Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3), Autosomal dominant; Endometrial cancer, familial, 608089 (3); Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive
ENSG00000116096	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3), ?Autosomal dominant, Autosomal recessive
ENSG00000116120	?Neurodevelopmental disorder with brain, liver, and lung abnormalities, 618007 (3), Autosomal recessive
ENSG00000116127	Alstrom syndrome, 203800 (3), Autosomal recessive
ENSG00000116132	Agnathia-otocephaly complex, 202650 (3), Autosomal recessive, Autosomal dominant
ENSG00000116133	Desmosterolosis, 602398 (3), Autosomal recessive
ENSG00000116171	?Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3), Autosomal recessive
ENSG00000116198	Joubert syndrome 25, 616781 (3), Autosomal recessive
ENSG00000116218	Nephrotic syndrome, type 2, 600995 (3), Autosomal recessive
ENSG00000116288	Parkinson disease 7, autosomal recessive early-onset, 606324 (3), Autosomal recessive
ENSG00000116337	Pontocerebellar hypoplasia, type 9, 615809 (3), Autosomal recessive; ?Spastic paraplegia 63, 615686 (3), Autosomal recessive
ENSG00000116353	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3), Autosomal recessive
ENSG00000116539	Mental retardation, autosomal dominant 52, 617796 (3), Autosomal dominant
ENSG00000116584	?Neurodevelopmental disorder with midbrain and hindbrain malformations, 617523 (3), Autosomal recessive
ENSG00000116586	Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3), Autosomal recessive
ENSG00000116641	Epileptic encephalopathy, early infantile, 23, 615859 (3), Autosomal recessive
ENSG00000116670	?Fanconi anemia, complementation group V, 617243 (3), Autosomal recessive
ENSG00000116675	Parkinson disease 19a, juvenile-onset, 615528 (3), Autosomal recessive; Parkinson disease 19b, early-onset, 615528 (3), Autosomal recessive
ENSG00000116678	Obesity, morbid, due to leptin receptor deficiency, 614963 (3)
ENSG00000116688	Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive; Hereditary motor and sensory neuropathy VIA, 601152 (3), Autosomal dominant
ENSG00000116690	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3), Autosomal recessive
ENSG00000116701	Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3), Autosomal recessive
ENSG00000116704	Schneckenbecken dysplasia, 269250 (3), Autosomal recessive
ENSG00000116711	Phospholipase A2, group IV A, deficiency of (3)
ENSG00000116745	Leber congenital amaurosis 2, 204100 (3), Autosomal recessive; Retinitis pigmentosa 20, 613794 (3), Autosomal recessive
ENSG00000116748	Myopathy due to myoadenylate deaminase deficiency, 615511 (3), Autosomal recessive
ENSG00000116761	Cystathioninuria, 219500 (3), Autosomal recessive; Homocysteine, total plasma, elevated (3)
ENSG00000116783	?Cardiac conduction disease with or without dilated cardiomyopathy, 616117 (3), Autosomal dominant
ENSG00000116785	{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3), Autosomal recessive, Autosomal dominant; {Macular degeneration, age-related, reduced risk of}, 603075 (3), Autosomal dominant
ENSG00000116874	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive
ENSG00000116906	Rhizomelic chondrodysplasia punctata, type 2, 222765 (3), Autosomal recessive
ENSG00000116984	Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3), Autosomal recessive; {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive
ENSG00000117013	Deafness, autosomal dominant 2A, 600101 (3), Autosomal dominant
ENSG00000117020	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937 (3), Autosomal dominant
ENSG00000117054	Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3), Autosomal recessive
ENSG00000117118	Gastrointestinal stromal tumor, 606444 (3); Paragangliolas 4, 115310 (3), Autosomal dominant; Paraganglioma and gastric stromal sarcoma, 606864 (3); Pheochromocytoma, 171300 (3), Autosomal dominant
ENSG00000117139	Mental retardation, autosomal recessive 65, 618109 (3), Autosomal recessive
ENSG00000117298	?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3), Autosomal dominant; {Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial
ENSG00000117305	HMG-CoA lyase deficiency, 246450 (3), Autosomal recessive
ENSG00000117308	Galactose epimerase deficiency, 230350 (3), Autosomal recessive
ENSG00000117322	Immunodeficiency, common variable, 7, 614699 (3), Autosomal recessive; {Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3)
ENSG00000117335	{Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3), Autosomal recessive, Autosomal dominant
ENSG00000117360	Retinitis pigmentosa 18, 601414 (3), Autosomal dominant
ENSG00000117385	Osteogenesis imperfecta, type VIII, 610915 (3), Autosomal recessive
ENSG00000117394	Dystonia 9, 601042 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 (3), Autosomal dominant; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3), Autosomal recessive, Autosomal dominant; GLUT1 deficiency syndrome 2, childhood onset, 612126 (3), Autosomal dominant; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3), Autosomal dominant
ENSG00000117400	Myelofibrosis with myeloid metaplasia, somatic, 254450 (3); Thrombocythemia 2, 601977 (3), Autosomal dominant, Somatic mutation; Thrombocytopenia, congenital amegakaryocytic, 604498 (3), Autosomal recessive
ENSG00000117425	Basal cell carcinoma, somatic, 605462 (3); Basal cell nevus syndrome, 109400 (3), Autosomal dominant; Medulloblastoma, somatic, 155255 (3)
ENSG00000117450	Methylmalonic aciduria and homocystinuria, cblC type, digenic, 277400 (3), Autosomal recessive
ENSG00000117479	Thiamine-responsive megaloblastic anemia syndrome, 249270 (3), Autosomal recessive
ENSG00000117480	{Drug addiction, susceptibility to}, 606581 (3)
ENSG00000117528	?Bile acid synthesis defect, congenital, 5, 616278 (3), Autosomal recessive
ENSG00000117560	Autoimmune lymphoproliferative syndrome, type IB, 601859 (3), Autosomal dominant; {Lung cancer, susceptibility to}, 211980 (3), Autosomal recessive
ENSG00000117586	{Myocardial infarction, susceptibility to}, 608446 (3)
ENSG00000117593	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3), Autosomal recessive
ENSG00000117594	Cortisone reductase deficiency 2, 614662 (3), Autosomal dominant
ENSG00000117595	{Orofacial cleft 6}, 608864 (3), Isolated cases; Popliteal pterygium syndrome 1, 119500 (3), Autosomal dominant; van der Woude syndrome, 119300 (3), Autosomal dominant
ENSG00000117601	Thrombophilia due to antithrombin III deficiency, 613118 (3), Autosomal recessive, Autosomal dominant
ENSG00000117620	?Arthrogryposis, mental retardation, and seizures, 615553 (3), Autosomal recessive
ENSG00000117650	?Retinitis pigmentosa 67, 615565 (3), Autosomal recessive
ENSG00000117682	?Congenital disorder of glycosylation, type 1bb, 613861 (3), Autosomal recessive; Developmental delay and seizures with or without movement abnormalities, 617836 (3), Autosomal dominant; Retinitis pigmentosa 59, 613861 (3), Autosomal recessive
ENSG00000117713	Coffin-Siris syndrome 2, 614607 (3), Autosomal dominant
ENSG00000117724	Stromme syndrome, 243605 (3), Autosomal recessive
ENSG00000117983	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3), Autosomal dominant
ENSG00000117984	Ceroid lipofuscinosis, neuronal, 10, 610127 (3), Autosomal recessive
ENSG00000118004	3MC syndrome 2, 265050 (3), Autosomal recessive
ENSG00000118007	Mental retardation, autosomal dominant 47, 617635 (3), Autosomal dominant
ENSG00000118046	Melanoma, malignant, somatic (3); Pancreatic cancer, 260350 (3), Autosomal dominant, Somatic mutation, Multifactorial; Peutz-Jeghers syndrome, 175200 (3), Autosomal dominant; Testicular tumor, somatic, 273300 (3)
ENSG00000118058	Leukemia, myeloid/lymphoid or mixed-lineage, 159555 (2), Autosomal dominant; Wiedemann-Steiner syndrome, 605130 (3), Autosomal dominant
ENSG00000118094	Trehalase deficiency, 612119 (3), Autosomal recessive
ENSG00000118137	Amyloidosis, 3 or more types, 105200 (3), Autosomal dominant; ApoA-I and apoC-III deficiency, combined (3); Corneal clouding, autosomal recessive (3); Hypoalphalipoproteinemia, 604091 (3)
ENSG00000118162	Mental retardation, autosomal recessive 41, 615637 (3), Autosomal recessive
ENSG00000118193	?Meckel syndrome 12, 616258 (3), Autosomal recessive; Microcephaly 20, primary, autosomal recessive, 617914 (3), Autosomal recessive
ENSG00000118194	Cardiomyopathy, dilated, 1D, 601494 (3), Autosomal dominant; Cardiomyopathy, familial restrictive, 3, 612422 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 2, 115195 (3), Autosomal dominant; Left ventricular noncompaction 6, 601494 (3), Autosomal dominant
ENSG00000118197	Orofaciodigital syndrome V, 174300 (3), Autosomal recessive
ENSG00000118217	Achromatopsia 7, 616517 (3), Autosomal recessive
ENSG00000118231	Cataract 4, multiple types, 115700 (3), Autosomal dominant
ENSG00000118246	?Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial
ENSG00000118260	Histiocytoma, angiomatoid fibrous, somatic, 612160 (3)
ENSG00000118271	Amyloidosis, hereditary, transthyretin-related, 105210 (3), Autosomal dominant; Carpal tunnel syndrome, familial, 115430 (3), Autosomal dominant; [Dystransthyretinemic hyperthyroxinemia], 145680 (3), Autosomal dominant
ENSG00000118402	Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3), Autosomal recessive; Spinocerebellar ataxia 34, 133190 (3), Autosomal dominant; Stargardt disease 3, 600110 (3), Autosomal dominant
ENSG00000118503	Autoinflammatory syndrome, familial, Behcet-like, 616744 (3), Autosomal dominant
ENSG00000118513	{T-cell acute lymphoblastic leukemia} (3)
ENSG00000118520	Argininemia, 207800 (3), Autosomal recessive
ENSG00000118557	Spermatogenic failure 31, 618112 (3), Autosomal recessive
ENSG00000118600	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3), Autosomal recessive
ENSG00000118729	Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3), Autosomal recessive
ENSG00000118762	Polycystic kidney disease 2, 613095 (3), Autosomal dominant
ENSG00000118777	[Junior blood group system], 614490 (3); [Uric acid concentration, serum, QTL1], 138900 (3), ?Autosomal dominant
ENSG00000118873	Martsolf syndrome, 212720 (3), Autosomal recessive; Warburg micro syndrome 2, 614225 (3), Autosomal recessive
ENSG00000118965	Cranioectodermal dysplasia 2, 613610 (3), Autosomal recessive; Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3), Autosomal recessive
ENSG00000118971	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3), Autosomal dominant
ENSG00000118972	Hypophosphatemic rickets, autosomal dominant, 193100 (3), Autosomal dominant; Osteomalacia, tumor-induced (1); Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 (3)
ENSG00000119013	Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000119042	Glass syndrome, 612313 (3), Autosomal dominant
ENSG00000119121	Hypomagnesemia 1, intestinal, 602014 (3), Autosomal recessive
ENSG00000119139	Cholestasis, progressive familial intrahepatic 4, 615878 (3), Autosomal recessive; Hypercholanemia, familial, 607748 (3)
ENSG00000119333	Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3), Autosomal recessive
ENSG00000119335	Mental retardation, autosomal dominant 58, 618106 (3), Autosomal dominant
ENSG00000119392	Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3); Lethal congenital contracture syndrome 1, 253310 (3), Autosomal recessive
ENSG00000119401	?Bardet-Biedl syndrome 11, 615988 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 (3), Autosomal recessive
ENSG00000119508	Chondrosarcoma, extraskeletal myxoid, 612237 (3)
ENSG00000119509	Nephronophthisis 2, infantile, 602088 (3), Autosomal recessive
ENSG00000119514	{Colorectal cancer, susceptibility to, 1}, 608812 (3)
ENSG00000119523	?Congenital disorder of glycosylation, type Ii, 607906 (3), Autosomal recessive; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3), Autosomal recessive
ENSG00000119535	Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3), Autosomal recessive
ENSG00000119537	Erythrokeratodermia variabilis et progressiva 4, 617526 (3), Autosomal recessive
ENSG00000119614	Microphthalmia with coloboma 3, 610092 (3); Microphthalmia, isolated 2, 610093 (3)
ENSG00000119638	?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3), Autosomal recessive; Lethal congenital contracture syndrome 10, 617022 (3), Autosomal recessive; Nevus comedonicus, somatic, 617025 (3)
ENSG00000119650	?Cranioectodermal dysplasia 3, 614099 (3), Autosomal recessive; ?Retinitis pigmentosa 81, 617871 (3), Autosomal recessive; Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3), Autosomal recessive
ENSG00000119655	Niemann-pick disease, type C2, 607625 (3), Autosomal recessive
ENSG00000119661	Ciliary dyskinesia, primary, 16, 614017 (3), Autosomal recessive
ENSG00000119669	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3), Autosomal dominant
ENSG00000119681	Glaucoma 3, primary congenital, D, 613086 (3); Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3), Autosomal recessive; ?Weill-Marchesani syndrome 3, recessive, 614819 (3), Autosomal recessive
ENSG00000119684	Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3); Colorectal cancer, somatic, 114500 (3); {Endometrial cancer, susceptibility to}, 608089 (3)
ENSG00000119685	Cone-rod dystrophy 19, 615860 (3), Autosomal recessive
ENSG00000119686	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3), Autosomal recessive
ENSG00000119688	Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3), Autosomal recessive
ENSG00000119699	Arrhythmogenic right ventricular dysplasia 1, 107970 (3), Autosomal dominant; Loeys-Dietz syndrome 5, 615582 (3), Autosomal dominant
ENSG00000119711	Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3), Autosomal recessive
ENSG00000119714	Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 (3), Autosomal recessive
ENSG00000119715	Deafness, autosomal recessive 35, 608565 (3), Autosomal recessive
ENSG00000119718	Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive; Ovarioleukodystrophy, 603896 (3), Autosomal recessive
ENSG00000119723	Coenzyme Q10 deficiency, primary, 6, 614650 (3), Autosomal recessive
ENSG00000119772	Acute myeloid leukemia, somatic, 601626 (3); Tatton-Brown-Rahman syndrome, 615879 (3), Autosomal dominant
ENSG00000119866	Dias-Logan syndrome, 617101 (3), Autosomal dominant
ENSG00000119878	Short stature with microcephaly and distinctive facies, 615789 (3), Autosomal recessive
ENSG00000119888	Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3); Diarrhea 5, with tufting enteropathy, congenital, 613217 (3), Autosomal recessive
ENSG00000119899	Salla disease, 604369 (3), Autosomal recessive; Sialic acid storage disorder, infantile, 269920 (3), Autosomal recessive
ENSG00000119950	Neurofibrosarcoma, somatic (3); {Prostate cancer, susceptibility to, somatic}, 176807 (3)
ENSG00000119969	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3), Autosomal recessive
ENSG00000119977	Joubert syndrome 18, 614815 (3), Autosomal recessive; Orofaciodigital syndrome IV, 258860 (3), Autosomal recessive
ENSG00000120008	Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3), Autosomal dominant
ENSG00000120053	Aspartate aminotransferase, serum level of, QTL1, 614419 (3)
ENSG00000120054	Carboxypeptidase N deficiency, 212070 (3), Autosomal recessive
ENSG00000120071	Koolen-De Vries syndrome, 610443 (3), Autosomal dominant
ENSG00000120094	Facial paresis, hereditary congenital, 3, 614744 (3), Autosomal recessive
ENSG00000120149	Craniosynostosis 2, 604757 (3), Autosomal dominant; Parietal foramina 1, 168500 (3), Autosomal dominant; Parietal foramina with cleidocranial dysplasia, 168550 (3), Autosomal dominant
ENSG00000120156	Glaucoma 3, primary congenital, E, 617272 (3), Autosomal dominant; Venous malformations, multiple cutaneous and mucosal, 600195 (3), Autosomal dominant
ENSG00000120370	Geroderma osteodysplasticum, 231070 (3), Autosomal recessive
ENSG00000120457	Hyperaldosteronism, familial, type III, 613677 (3), Autosomal dominant; Long QT syndrome 13, 613485 (3), Autosomal dominant
ENSG00000120498	Spermatogenic failure, X-linked, 2, 309120 (3), X-linked recessive
ENSG00000120500	Myopia 26, X-linked, female-limited, 301010 (3), X-linked
ENSG00000120659	Osteopetrosis, autosomal recessive 2, 259710 (3), Autosomal recessive
ENSG00000120686	Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive
ENSG00000120693	Pulmonary hypertension, primary, 2, 615342 (3), Autosomal dominant
ENSG00000120699	Pontocerebellar hypoplasia, type 1C, 616081 (3), Autosomal recessive
ENSG00000120708	Corneal dystrophy, Avellino type, 607541 (3), Autosomal dominant; Corneal dystrophy, Groenouw type I, 121900 (3), Autosomal dominant; Corneal dystrophy, Reis-Bucklers type, 608470 (3); Corneal dystrophy, Thiel-Behnke type, 602082 (3), Autosomal dominant; Corneal dystrophy, epithelial basement membrane, 121820 (3), Autosomal dominant; Corneal dystrophy, lattice type I, 122200 (3), Autosomal dominant; Corneal dystrophy, lattice type IIIA, 608471 (3), Autosomal dominant
ENSG00000120725	Marinesco-Sjogren syndrome, 248800 (3), Autosomal recessive
ENSG00000120729	Myopathy, myofibrillar, 3, 609200 (3), Autosomal dominant; Myopathy, spheroid body, 182920 (3), Autosomal dominant
ENSG00000120889	Squamous cell carcinoma, head and neck, 275355 (3), Autosomal recessive
ENSG00000120903	Epilepsy, nocturnal frontal lobe, type 4, 610353 (3), Autosomal dominant
ENSG00000120915	{Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3), Autosomal dominant
ENSG00000120925	Ataxia, sensory, 1, autosomal dominant, 608984 (3), Autosomal dominant
ENSG00000120942	Corneal dystrophy, Schnyder type, 121800 (3), Autosomal dominant
ENSG00000120948	Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3), Autosomal dominant; Frontotemporal lobar degeneration, TARDBP-related, 612069 (3), Autosomal dominant
ENSG00000121053	[Eosinophil peroxidase deficiency], 261500 (3), Autosomal recessive
ENSG00000121075	Ischiocoxopodopatellar syndrome, 147891 (3), Autosomal dominant
ENSG00000121101	?Spermatogenic failure 23, 617707 (3), Autosomal recessive
ENSG00000121152	?Microcephaly 23, primary, autosomal recessive, 617985 (3), Autosomal recessive
ENSG00000121207	Leber congenital amaurosis 14, 613341 (3), Autosomal recessive; Retinal dystrophy, early-onset severe, 613341 (3), Autosomal recessive; Retinitis pigmentosa, juvenile, 613341 (3), Autosomal recessive
ENSG00000121270	[Axillary odor, variation in], 117800 (3), Autosomal dominant; [Colostrum secretion, variation in], 117800 (3), Autosomal dominant; [Earwax, wet/dry], 117800 (3), Autosomal dominant
ENSG00000121350	Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive
ENSG00000121454	Pituitary hormone deficiency, combined, 4, 262700 (3), Autosomal dominant
ENSG00000121552	Peeling skin syndrome 4, 607936 (3), Autosomal recessive
ENSG00000121634	Cataract 1, multiple types, 116200 (3), Autosomal dominant
ENSG00000121653	{Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant
ENSG00000121680	Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3), Autosomal recessive; Peroxisome biogenesis disorder 8B, 614877 (3), Autosomal recessive
ENSG00000121691	Acatalasemia, 614097 (3)
ENSG00000121742	Deafness, autosomal dominant 3B, 612643 (3), Autosomal dominant; Deafness, autosomal recessive 1B, 612645 (3), Autosomal recessive; Deafness, digenic GJB2/GJB6, 220290 (3), Autosomal recessive; Ectodermal dysplasia 2, Clouston type, 129500 (3), Autosomal dominant
ENSG00000121743	Cataract 14, multiple types, 601885 (3), Autosomal dominant
ENSG00000121807	{HIV infection, susceptibility/resistance to} (3)
ENSG00000121853	Growth hormone deficiency, isolated partial, 615925 (3), Autosomal recessive, Autosomal dominant
ENSG00000121879	Breast cancer, somatic, 114480 (3); CLAPO syndrome, somatic, 613089 (3); CLOVE syndrome, somatic, 612918 (3); Colorectal cancer, somatic, 114500 (3); Cowden syndrome 5, 615108 (3); Gastric cancer, somatic, 613659 (3); Hepatocellular carcinoma, somatic, 114550 (3); Keratosis, seborrheic, somatic, 182000 (3); Macrodactyly, somatic, 155500 (3); Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3); Nevus, epidermal, somatic, 162900 (3); Nonsmall cell lung cancer, somatic, 211980 (3); Ovarian cancer, somatic, 167000 (3)
ENSG00000121897	Hyperglycinemia, lactic acidosis, and seizures, 614462 (3), Autosomal recessive
ENSG00000121905	Dystonia 2, torsion, autosomal recessive, 224500 (3), Autosomal recessive
ENSG00000121957	Chudley-McCullough syndrome, 604213 (3), Autosomal recessive
ENSG00000121966	Myelokathexis, isolated (3); WHIM syndrome, 193670 (3), Autosomal dominant
ENSG00000122025	Leukemia, acute lymphoblastic, somatic, 613065 (3); Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3); Leukemia, acute myeloid, somatic, 601626 (3)
ENSG00000122026	Hypotrichosis 12, 615885 (3), Autosomal dominant
ENSG00000122121	{Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3)
ENSG00000122126	Dent disease 2, 300555 (3), X-linked recessive; Lowe syndrome, 309000 (3), X-linked recessive
ENSG00000122140	Combined oxidative phosphorylation deficiency 36, 617950 (3), Autosomal recessive
ENSG00000122145	?Abruzzo-Erickson syndrome, 302905 (3), X-linked; Cleft palate with ankyloglossia, 303400 (3), X-linked
ENSG00000122194	Dysplasminogenemia, 217090 (3), Autosomal recessive; Plasminogen deficiency, type I, 217090 (3), Autosomal recessive
ENSG00000122218	{Autoimmune interstitial lung, joint, and kidney disease}, 616414 (3), Autosomal dominant
ENSG00000122223	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
ENSG00000122335	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3), Autosomal recessive
ENSG00000122359	Amytrophic lateral sclerosis 23, 617839 (3), Autosomal dominant
ENSG00000122367	Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 24, 601493 (3), Autosomal dominant; Left ventricular noncompaction 3, 601493 (3), Autosomal dominant; Myopathy, myofibrillar, 4, 609452 (3), Autosomal dominant
ENSG00000122406	Diamond-Blackfan anemia 6, 612561 (3), Autosomal dominant
ENSG00000122482	Myopia 21, autosomal dominant, 614167 (3), Autosomal dominant
ENSG00000122507	Bardet-Biedl syndrome 9, 615986 (3), Autosomal recessive
ENSG00000122512	Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3); Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive
ENSG00000122550	Cold-induced sweating syndrome 3, 617055 (3), Autosomal recessive; Retinitis pigmentosa 42, 612943 (3), Autosomal dominant
ENSG00000122566	?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, 615422 (3)
ENSG00000122591	Leukodystrophy, hypomyelinating, 5, 610532 (3), Autosomal recessive
ENSG00000122643	Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3), Autosomal recessive
ENSG00000122691	Craniosynostosis 1, 123100 (3), Autosomal dominant; Robinow-Sorauf syndrome, 180750 (3), Autosomal dominant; Saethre-Chotzen syndrome with or without eyelid anomalies, 101400 (3), Autosomal dominant; Sweeney-Cox syndrome, 617746 (3), Autosomal dominant
ENSG00000122735	Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3), Autosomal recessive
ENSG00000122787	Bile acid synthesis defect, congenital, 2, 235555 (3), Autosomal recessive
ENSG00000122859	Diarrhea 4, malabsorptive, congenital, 610370 (3), Autosomal recessive
ENSG00000122861	{Alzheimer disease, late-onset, susceptibility to}, 104300 (3), Autosomal dominant; Quebec platelet disorder, 601709 (3), Autosomal dominant
ENSG00000122863	Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3), Autosomal recessive
ENSG00000122870	{Renal dysplasia, cystic, susceptibility to}, 601331 (3), Autosomal dominant
ENSG00000122877	Charcot-Marie-Tooth disease, type 1D, 607678 (3), Autosomal dominant; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; Neuropathy, congenital hypomyelinating, 1, 605253 (3), Autosomal recessive, Autosomal dominant
ENSG00000122966	Microcephaly 17, primary, autosomal recessive, 617090 (3), Autosomal recessive
ENSG00000122970	Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 (3), Autosomal recessive
ENSG00000122971	Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3), Autosomal recessive
ENSG00000123066	Mental retardation and distinctive facial features with or without cardiac defects, 616789 (3), Autosomal dominant; Transposition of the great arteries, dextro-looped 1, 608808 (3), Autosomal dominant
ENSG00000123095	[Short sleeper], 612975 (3), Autosomal dominant
ENSG00000123104	?Anhidrosis, isolated, with normal sweat glands, 106190 (3), Autosomal recessive
ENSG00000123191	Wilson disease, 277900 (3), Autosomal recessive
ENSG00000123240	Amyotrophic lateral sclerosis 12, 613435 (3); Glaucoma 1, open angle, E, 137760 (3), Autosomal dominant; {Glaucoma, normal tension, susceptibility to}, 606657 (3)
ENSG00000123297	Combined oxidative phosphorylation deficiency 3, 610505 (3), Autosomal recessive
ENSG00000123342	Cavitary optic disc anomalies, 611543 (3), Autosomal dominant
ENSG00000123364	Ectodermal dysplasia 9, hair/nail type, 614931 (3), Autosomal recessive
ENSG00000123384	?Keratosis pilaris atrophicans, 604093 (3), Autosomal recessive
ENSG00000123453	[Sarcosinemia], 268900 (3), Autosomal recessive
ENSG00000123454	Dopamine beta-hydroxylase deficiency, 223360 (3), Autosomal recessive; [Dopamine-beta-hydroxylase activity levels, plasma] (3)
ENSG00000123473	Microcephaly 7, primary, autosomal recessive, 612703 (3), Autosomal recessive
ENSG00000123500	Metaphyseal chondrodysplasia, Schmid type, 156500 (3), Autosomal dominant
ENSG00000123545	Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000123560	Pelizaeus-Merzbacher disease, 312080 (3), X-linked recessive; Spastic paraplegia 2, X-linked, 312920 (3), X-linked recessive
ENSG00000123561	[Thyroxine-binding globulin QTL], 300932 (3)
ENSG00000123607	Nephronophthisis 12, 613820 (3), Autosomal recessive, Autosomal dominant; Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3), Autosomal recessive
ENSG00000123700	Andersen syndrome, 170390 (3), Autosomal dominant; Atrial fibrillation, familial, 9, 613980 (3), Autosomal dominant; Short QT syndrome 3, 609622 (3)
ENSG00000123737	Pontocerebellar hypoplasia, type 1D, 618065 (3), Autosomal recessive
ENSG00000123810	Joubert syndrome 34, 614175 (3), Autosomal recessive; ?Meckel syndrome 10, 614175 (3), Autosomal recessive
ENSG00000123815	Nephrotic syndrome, type 9, 615573 (3), Autosomal recessive
ENSG00000124006	3-M syndrome 2, 612921 (3)
ENSG00000124089	{Mycobacterium tuberculosis, protection against}, 607948 (3); {Obesity, severe, susceptibility to, BMIQ9}, 602025 (3)
ENSG00000124140	{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive
ENSG00000124155	Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3), Autosomal recessive; ?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3), Autosomal dominant, Somatic mutation
ENSG00000124164	Amyotrophic lateral sclerosis 8, 608627 (3), Autosomal dominant; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3), Autosomal dominant
ENSG00000124172	?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3)
ENSG00000124198	Periventricular heterotopia with microcephaly, 608097 (3), Autosomal recessive
ENSG00000124205	Central hypoventilation syndrome, congenital, 209880 (3), Autosomal dominant; {Hirschsprung disease, susceptibility to, 4}, 613712 (3), Autosomal dominant; Waardenburg syndrome, type 4B, 613265 (3), Autosomal recessive, Autosomal dominant
ENSG00000124212	Hypertension, essential, 145500 (3), Multifactorial
ENSG00000124222	Pseudohypoparathyroidism, type IB, 603233 (3), Autosomal dominant
ENSG00000124253	?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3), Autosomal recessive
ENSG00000124275	Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3), Autosomal recessive; {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive
ENSG00000124299	Prolidase deficiency, 170100 (3), Autosomal recessive
ENSG00000124302	?Peeling skin syndrome 3, 616265 (3), Autosomal recessive
ENSG00000124313	Mental retardation, X-linked 1/78, 309530 (3), X-linked dominant
ENSG00000124356	Microcephaly-capillary malformation syndrome, 614261 (3), Autosomal recessive
ENSG00000124370	Methylmalonyl-CoA epimerase deficiency, 251120 (3), Autosomal recessive
ENSG00000124429	?Premature ovarian failure 2B, 300604 (3), X-linked recessive
ENSG00000124479	Exudative vitreoretinopathy 2, X-linked, 305390 (3); Norrie disease, 310600 (3), X-linked recessive
ENSG00000124486	Mental retardation, X-linked 99, 300919 (3), X-linked recessive; Mental retardation, X-linked 99, syndromic, female-restricted, 300968 (3), X-linked dominant
ENSG00000124491	Factor XIIIA deficiency, 613225 (3), Autosomal recessive; {Myocardial infarction, protection against}, 608446 (3); {Venous thrombosis, protection against}, 188050 (3), Autosomal dominant
ENSG00000124564	{Gout susceptibility 4}, 612671 (3), Autosomal dominant; [Uric acid concentration, serum, QTL4], 612671 (3), Autosomal dominant
ENSG00000124570	?Deafness, autosomal recessive 91, 613453 (3), Autosomal recessive
ENSG00000124587	Heimler syndrome 2, 616617 (3), Autosomal recessive; Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3), Autosomal recessive; Peroxisome biogenesis disorder 4B, 614863 (3), Autosomal recessive, Autosomal dominant
ENSG00000124608	Combined oxidative phosphorylation deficiency 8, 614096 (3), Autosomal recessive; Leukoencephalopathy, progressive, with ovarian failure, 615889 (3), Autosomal recessive
ENSG00000124614	Diamond-Blackfan anemia 9, 613308 (3), Autosomal dominant
ENSG00000124615	Molybdenum cofactor deficiency A, 252150 (3), Autosomal recessive
ENSG00000124713	Glycine N-methyltransferase deficiency, 606664 (3), Autosomal recessive
ENSG00000124788	Spinocerebellar ataxia 1, 164400 (3), Autosomal dominant
ENSG00000124813	Cleidocranial dysplasia, 119600 (3), Autosomal dominant; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3), Autosomal dominant; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 (3), Autosomal dominant; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (3), Autosomal dominant
ENSG00000124827	Hyperparathyroidism 4, 617343 (3), Autosomal dominant; Hypoparathyroidism, familial isolated, 146200 (3), Autosomal dominant
ENSG00000124920	Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 (3), Autosomal dominant
ENSG00000125084	Osteogenesis imperfecta, type XV, 615220 (3), Autosomal recessive; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 (3)
ENSG00000125124	Bardet-Biedl syndrome 2, 615981 (3), Autosomal recessive; Retinitis pigmentosa 74, 616562 (3), Autosomal recessive
ENSG00000125255	Bile acid malabsorption, primary, 613291 (3), Autosomal recessive
ENSG00000125347	Gastric cancer, somatic, 613659 (3); Myelodysplastic syndrome, preleukemic (3); Myelogenous leukemia, acute (3); Nonsmall cell lung cancer, somatic, 211980 (3)
ENSG00000125351	Mental retardation, X-linked, syndromic 14, 300676 (3), X-linked recessive
ENSG00000125352	?Trichothiodystrophy 5, nonphotosensitive, 300953 (3), X-linked dominant
ENSG00000125356	Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000125363	Amelogenesis imperfecta, type 1E, 301200 (3), X-linked dominant
ENSG00000125378	Microphthalmia, syndromic 6, 607932 (3), Autosomal dominant; Orofacial cleft 11, 600625 (3)
ENSG00000125384	{Asthma, aspirin-induced, susceptibility to}, 208550 (3), Autosomal recessive
ENSG00000125398	Acampomelic campomelic dysplasia, 114290 (3), Autosomal dominant; Campomelic dysplasia, 114290 (3), Autosomal dominant; Campomelic dysplasia with autosomal sex reversal, 114290 (3), Autosomal dominant
ENSG00000125414	Proximal myopathy and ophthalmoplegia, 605637 (3), Autosomal recessive, Autosomal dominant
ENSG00000125445	?Combined oxidative phosphorylation deficiency 34, 617872 (3), Autosomal recessive
ENSG00000125454	Microcephaly, Amish type, 607196 (3), Autosomal recessive; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3), Autosomal recessive
ENSG00000125459	Myopathy, mitochondrial, and ataxia, 617675 (3), Autosomal recessive, Autosomal dominant
ENSG00000125505	Mental retardation, autosomal recessive 57, 617188 (3), Autosomal recessive
ENSG00000125538	{Gastric cancer risk after H. pylori infection}, 137215 (3), Autosomal dominant
ENSG00000125618	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3), Autosomal dominant
ENSG00000125656	Perrault syndrome 3, 614129 (3), Autosomal recessive
ENSG00000125675	Mental retardation, X-linked 94, 300699 (3), X-linked recessive
ENSG00000125676	Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive
ENSG00000125730	C3 deficiency, 613779 (3), Autosomal recessive; {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3), Autosomal dominant; {Macular degeneration, age-related, 9}, 611378 (3)
ENSG00000125741	3-methylglutaconic aciduria, type III, 258501 (3), Autosomal recessive; Optic atrophy 3 with cataract, 165300 (3), Autosomal dominant
ENSG00000125744	Spastic paraplegia 12, autosomal dominant, 604805 (3), Autosomal dominant
ENSG00000125779	HARP syndrome, 607236 (3), Autosomal recessive; Neurodegeneration with brain iron accumulation 1, 234200 (3), Autosomal recessive
ENSG00000125780	?Uncombable hair syndrome 2, 617251 (3), Autosomal recessive
ENSG00000125812	Joint laxity, short stature, and myopia, 617662 (3), Autosomal recessive
ENSG00000125813	?Otofaciocervical syndrome 2, 615560 (3), Autosomal recessive
ENSG00000125826	Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3), Autosomal recessive
ENSG00000125835	Cerebrocostomandibular syndrome, 117650 (3), Autosomal dominant
ENSG00000125845	Brachydactyly, type A2, 112600 (3), Autosomal dominant; {HFE hemochromatosis, modifier of}, 235200 (3), Autosomal recessive; Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3), Autosomal dominant
ENSG00000125848	Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3), Autosomal dominant
ENSG00000125850	Corneal dystrophy, posterior polymorphous, 1, 122000 (3), Autosomal dominant
ENSG00000125863	Bardet-Biedl syndrome 6, 605231 (3), Autosomal recessive; McKusick-Kaufman syndrome, 236700 (3), Autosomal recessive
ENSG00000125864	Cataract 33, multiple types, 611391 (3), Autosomal recessive, Autosomal dominant
ENSG00000125871	Mitochondrial DNA depletion syndrome 11, 615084 (3), Autosomal recessive
ENSG00000125875	Warburg micro syndrome 4, 615663 (3), Autosomal recessive
ENSG00000125877	Epileptic encephalopathy, early infantile, 35, 616647 (3), Autosomal recessive; [Inosine triphosphatase deficiency], 613850 (3)
ENSG00000125885	?Premature ovarian failure 10, 612885 (3), Autosomal recessive
ENSG00000125952	{Pheochromocytoma, susceptibility to}, 171300 (3), Autosomal dominant
ENSG00000125965	?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3), Autosomal recessive; Brachydactyly, type A1, C, 615072 (3), Autosomal recessive, Autosomal dominant; Brachydactyly, type A2, 112600 (3), Autosomal dominant; Brachydactyly, type C, 113100 (3), Autosomal dominant; Chondrodysplasia, Grebe type, 200700 (3), Autosomal recessive; Du Pan syndrome, 228900 (3), Autosomal recessive; Multiple synostoses syndrome 2, 610017 (3), Autosomal dominant; {Osteoarthritis-5}, 612400 (3); Symphalangism, proximal, 1B, 615298 (3)
ENSG00000126012	Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3), X-linked recessive
ENSG00000126088	Porphyria cutanea tarda, 176100 (3), Autosomal recessive, Autosomal dominant; Porphyria, hepatoerythropoietic, 176100 (3), Autosomal recessive, Autosomal dominant
ENSG00000126091	?Epileptic encephalopathy, early infantile, 15, 615006 (3), Autosomal recessive; Mental retardation, autosomal recessive 12, 611090 (3), Autosomal recessive
ENSG00000126215	{Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant; {Melanoma, cutaneous malignant, 6}, 613972 (3)
ENSG00000126218	Factor X deficiency, 227600 (3), Autosomal recessive
ENSG00000126231	[Protein Z deficiency], 614024 (3)
ENSG00000126233	Meleda disease, 248300 (3), Autosomal recessive
ENSG00000126267	Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial
ENSG00000126351	Hypothyroidism, congenital, nongoitrous, 6, 614450 (3), Autosomal dominant
ENSG00000126456	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532 (3), Autosomal dominant
ENSG00000126522	Argininosuccinic aciduria, 207900 (3), Autosomal recessive
ENSG00000126524	{Aplastic anemia, susceptibility to}, 609135 (3); Shwachman-Diamond syndrome, 260400 (3), Autosomal recessive
ENSG00000126562	Pseudohypoaldosteronism, type IIB, 614491 (3), Autosomal dominant
ENSG00000126583	Spinocerebellar ataxia 14, 605361 (3), Autosomal dominant
ENSG00000126603	Nephronophthisis 7, 611498 (3)
ENSG00000126705	Xia-Gibbs syndrome, 615829 (3), Autosomal dominant
ENSG00000126749	Bowen-Conradi syndrome, 211180 (3), Autosomal recessive
ENSG00000126752	?Sarcoma, synovial, 300813 (3)
ENSG00000126759	Properdin deficiency, X-linked, 312060 (3), X-linked recessive
ENSG00000126778	Branchiootic syndrome 3, 608389 (3), Autosomal dominant; Deafness, autosomal dominant 23, 605192 (3), Autosomal dominant
ENSG00000126814	Combined oxidative phosphorylation deficiency 26, 616539 (3), Autosomal recessive
ENSG00000126870	Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3), Autosomal recessive
ENSG00000126883	Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3); Leukemia, acute myeloid, somatic, 601626 (3)
ENSG00000126895	Diabetes insipidus, nephrogenic, 304800 (3), X-linked recessive; Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3), X-linked recessive
ENSG00000126934	Cardiofaciocutaneous syndrome 4, 615280 (3)
ENSG00000126945	Mental retardation, X-linked, syndromic, Bain type, 300986 (3), X-linked dominant
ENSG00000126953	Mohr-Tranebjaerg syndrome, 304700 (3), X-linked recessive
ENSG00000126970	Wieacker-Wolff syndrome, 314580 (3), X-linked recessive
ENSG00000127152	Immunodeficiency 49, 617237 (3), Autosomal dominant; Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092 (3), Autosomal dominant
ENSG00000127241	3MC syndrome 1, 257920 (3), Autosomal recessive
ENSG00000127415	Mucopolysaccharidosis Ih, 607014 (3), Autosomal recessive; Mucopolysaccharidosis Ih/s, 607015 (3), Autosomal recessive; Mucopolysaccharidosis Is, 607016 (3), Autosomal recessive
ENSG00000127463	Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3), Autosomal recessive
ENSG00000127472	[Fleck retina, familial benign], 228980 (3), Autosomal recessive
ENSG00000127507	Vibratory urticaria, 125630 (3), Autosomal dominant
ENSG00000127554	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3)
ENSG00000127616	Coffin-Siris syndrome 4, 614609 (3), Autosomal dominant; {Rhabdoid tumor predisposition syndrome 2}, 613325 (3), Autosomal dominant
ENSG00000127666	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3), Autosomal recessive, Autosomal dominant
ENSG00000127824	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208 (3), Autosomal dominant
ENSG00000127838	Paroxysmal nonkinesigenic dyskinesia 1, 118800 (3), Autosomal dominant
ENSG00000127870	Esophageal carcinoma, somatic, 133239 (3)
ENSG00000127884	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3), Autosomal recessive
ENSG00000127914	?Long QT syndrome-11, 611820 (3), Autosomal dominant
ENSG00000127947	Colon cancer, somatic, 114500 (3)
ENSG00000127948	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3), Autosomal recessive; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)
ENSG00000127980	Heimler syndrome 1, 234580 (3), Autosomal recessive; Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3), Autosomal recessive; Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3), Autosomal recessive
ENSG00000127990	Dystonia-11, myoclonic, 159900 (3), Autosomal dominant
ENSG00000128039	Congenital disorder of glycosylation, type Iq, 612379 (3), Autosomal recessive; Kahrizi syndrome, 612713 (3), Autosomal recessive
ENSG00000128040	?Spermatogenic failure 29, 618091 (3), Autosomal recessive
ENSG00000128052	Hemangioma, capillary infantile, somatic, 602089 (3); {Hemangioma, capillary infantile, susceptibility to}, 602089 (3), Autosomal dominant
ENSG00000128159	Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3), Autosomal recessive
ENSG00000128274	[Blood group, P1Pk system, P(2) phenotype], 111400 (3); [Blood group, P1Pk system, p phenotype], 111400 (3); NOR polyagglutination syndrome, 111400 (3)
ENSG00000128322	Agammaglobulinemia 2, 613500 (3), Autosomal recessive
ENSG00000128340	Neutrophil immunodeficiency syndrome, 608203 (3)
ENSG00000128422	Pachyonychia congenita 2, 167210 (3), Autosomal dominant; Steatocystoma multiplex, 184500 (3), Autosomal dominant
ENSG00000128513	{Glioma susceptibility 9}, 616568 (3), Autosomal dominant; {Melanoma, cutaneous malignant, susceptibility to, 10}, 615848 (3), Autosomal dominant
ENSG00000128519	[Beta-glycopyranoside tasting], (3) {Alcohol dependence, susceptibility to}, 617956 (3)
ENSG00000128573	Speech-language disorder-1, 602081 (3), Autosomal dominant
ENSG00000128591	Cardiomyopathy, familial hypertrophic, 26 (3); Cardiomyopathy, familial restrictive 5, 617047 (3), Autosomal dominant; Myopathy, distal, 4, 614065 (3), Autosomal dominant; Myopathy, myofibrillar, 5, 609524 (3), Autosomal dominant
ENSG00000128602	Basal cell carcinoma, somatic, 605462 (3); Curry-Jones syndrome, somatic mosaic, 601707 (3)
ENSG00000128604	{Inflammatory bowel disease 14}, 612245 (3); {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
ENSG00000128610	Hypogonadotropic hypogonadism 22, with or without anosmia, 616030 (3), Autosomal recessive
ENSG00000128617	Colorblindness, tritan, 190900 (3), Autosomal dominant
ENSG00000128655	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3), Autosomal dominant
ENSG00000128656	Duane retraction syndrome 2, 604356 (3)
ENSG00000128683	?Cerebral palsy, spastic quadriplegic, 1, 603513 (3), Autosomal recessive
ENSG00000128710	Charcot-Marie-Tooth disease, foot deformity of, 192950 (3), Autosomal dominant; Vertical talus, congenital, 192950 (3), Autosomal dominant
ENSG00000128714	Brachydactyly, type D, 113200 (3), Autosomal dominant; Brachydactyly, type E, 113300 (3), Autosomal dominant; ?Brachydactyly-syndactyly syndrome, 610713 (3); Syndactyly, type V, 186300 (3), Autosomal dominant; Synpolydactyly 1, 186000 (3), Autosomal dominant
ENSG00000128731	Mental retardation, autosomal recessive 38, 615516 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3), Autosomal recessive
ENSG00000128739	Prader-Willi syndrome, 176270 (3), Isolated cases
ENSG00000128829	Pulmonary venoocclusive disease 2, 234810 (3), Autosomal recessive
ENSG00000128881	Spinocerebellar ataxia 11, 604432 (3), Autosomal dominant
ENSG00000128917	Adams-Oliver syndrome 6, 616589 (3), Autosomal dominant
ENSG00000128928	Isovaleric acidemia, 243500 (3), Autosomal recessive
ENSG00000128973	Ceroid lipofuscinosis, neuronal, 6, 601780 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 (3), Autosomal recessive
ENSG00000129003	Parkinson disease 23, autosomal recessive, early onset, 616840 (3), Autosomal recessive
ENSG00000129038	{Exfoliation syndrome, susceptibility to}, 177650 (3), Autosomal dominant
ENSG00000129116	{Pancreatic cancer, susceptibility to, 1}, 606856 (3)
ENSG00000129159	Epilepsy, progressive myoclonic 7, 616187 (3), Autosomal dominant
ENSG00000129170	?Cardiomyopathy, dilated, 1M, 607482 (3); Cardiomyopathy, hypertrophic, 12, 612124 (3), Autosomal dominant
ENSG00000129221	Cone-rod dystrophy, 604393 (3), Autosomal recessive; Leber congenital amaurosis 4, 604393 (3), Autosomal recessive; Retinitis pigmentosa, juvenile, 604393 (3), Autosomal recessive
ENSG00000129250	Spastic ataxia 2, autosomal recessive, 611302 (3), Autosomal recessive
ENSG00000129255	Congenital disorder of glycosylation, type If, 609180 (3), Autosomal recessive
ENSG00000129295	Ciliary dyskinesia, primary, 19, 614935 (3), Autosomal recessive
ENSG00000129535	Retinal degeneration, autosomal recessive, clumped pigment type (3); Retinitis pigmentosa 27, 613750 (3), Autosomal dominant
ENSG00000129667	Tylosis with esophageal cancer, 148500 (3), Autosomal dominant
ENSG00000129675	?Mental retardation, X-linked 46, 300436 (3), X-linked recessive
ENSG00000129696	Mental retardation, autosomal recessive 39, 615541 (3), Autosomal recessive
ENSG00000129757	Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant; IMAGE syndrome, 614732 (3), Autosomal dominant
ENSG00000129810	Chronic atrial and intestinal dysrhythmia, 616201 (3), Autosomal recessive
ENSG00000129910	Mental retardation, autosomal dominant 3, 612580 (3)
ENSG00000129991	Cardiomyopathy, dilated, 1FF, 613286 (3); ?Cardiomyopathy, dilated, 2A, 611880 (3), Autosomal recessive; Cardiomyopathy, familial restrictive, 1, 115210 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 7, 613690 (3), Autosomal dominant
ENSG00000130005	Cerebral creatine deficiency syndrome 2, 612736 (3), Autosomal recessive
ENSG00000130023	?Periventricular nodular heterotopia 6, 615544 (3), Autosomal dominant
ENSG00000130037	Atrial fibrillation, familial, 7, 612240 (3), Autosomal dominant
ENSG00000130158	Adams-Oliver syndrome 2, 614219 (3), Autosomal recessive
ENSG00000130164	Hypercholesterolemia, familial, 143890 (3), Autosomal dominant; LDL cholesterol level QTL2, 143890 (3), Autosomal dominant
ENSG00000130175	Polycystic liver disease 1, 174050 (3), Autosomal dominant
ENSG00000130203	Alzheimer disease-2, 104310 (3), Autosomal dominant; {Coronary artery disease, severe, susceptibility to}, 617347 (3); Hyperlipoproteinemia, type III, 617347 (3); Lipoprotein glomerulopathy, 611771 (3); {?Macular degeneration, age-related}, 603075 (3), Autosomal dominant; Sea-blue histiocyte disease, 269600 (3), Autosomal recessive
ENSG00000130226	Mental retardation, autosomal dominant 33, 616311 (3); {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3), Autosomal dominant
ENSG00000130294	Mental retardation, autosomal dominant 9, 614255 (3), Autosomal dominant; Neuropathy, hereditary sensory, type IIC, 614213 (3), Autosomal recessive; Spastic paraplegia 30, autosomal recessive, 610357 (3), Autosomal recessive
ENSG00000130299	Combined oxidative phosphorylation deficiency 23, 616198 (3), Autosomal recessive
ENSG00000130347	Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive
ENSG00000130363	Ciliary dyskinesia, primary, 32, 616481 (3), Autosomal recessive
ENSG00000130385	Ovarian dysgenesis 2, 300510 (3), X-linked; Premature ovarian failure 4, 300510 (3), X-linked
ENSG00000130402	Glomerulosclerosis, focal segmental, 1, 603278 (3), Autosomal dominant
ENSG00000130414	Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial
ENSG00000130427	?Diamond-Blackfan anemia-like, 617911 (3), Autosomal recessive; Erythrocytosis, familial, 5, 617907 (3), Autosomal dominant; {Microvascular complications of diabetes 2}, 612623 (3)
ENSG00000130429	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive
ENSG00000130449	Acromelic frontonasal dysostosis, 603671 (3), Autosomal dominant; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3), Autosomal dominant
ENSG00000130489	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3), Autosomal recessive; Myopia 6, 608908 (3), Autosomal dominant
ENSG00000130508	Anterior segment dysgenesis 7, with sclerocornea, 269400 (3), Autosomal recessive
ENSG00000130529	Progressive familial heart block, type IB, 604559 (3), Autosomal dominant
ENSG00000130561	Oguchi disease-1, 258100 (3), Autosomal recessive; Retinitis pigmentosa 47, 613758 (3)
ENSG00000130595	Arthrogryposis, distal, type 2B, 601680 (3), Autosomal dominant
ENSG00000130598	Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3), Autosomal dominant
ENSG00000130600	Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant; Silver-Russell syndrome, 180860 (3), Isolated cases; Wilms tumor 2, 194071 (3), Autosomal dominant, Somatic mutation
ENSG00000130635	Ehlers-Danlos syndrome, classic type, 1, 130000 (3), Autosomal dominant
ENSG00000130638	Spinocerebellar ataxia 10, 603516 (3), Autosomal dominant
ENSG00000130675	Currarino syndrome, 176450 (3), Autosomal dominant
ENSG00000130700	Congenital heart defects, multiple types, 5, 617912 (3), Autosomal recessive, Autosomal dominant
ENSG00000130703	Deafness, autosomal dominant 67, 616340 (3), Autosomal dominant
ENSG00000130707	Citrullinemia, 215700 (3), Autosomal recessive
ENSG00000130711	Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive
ENSG00000130713	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, 617763 (3), Autosomal recessive
ENSG00000130714	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3), Autosomal recessive
ENSG00000130741	MEHMO syndrome, 300148 (3), X-linked recessive
ENSG00000130816	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3), Autosomal dominant; Neuropathy, hereditary sensory, type IE, 614116 (3), Autosomal dominant
ENSG00000130821	Cerebral creatine deficiency syndrome 1, 300352 (3), X-linked recessive
ENSG00000130826	Dyskeratosis congenita, X-linked, 305000 (3), X-linked recessive
ENSG00000130921	Combined oxidative phosphorylation deficiency 7, 613559 (3), Autosomal recessive; Spastic paraplegia 55, autosomal recessive, 615035 (3), Autosomal recessive
ENSG00000130948	Pseudohermaphroditism, male, with gynecomastia, 264300 (3), Autosomal recessive
ENSG00000130985	Spinal muscular atrophy, X-linked 2, infantile, 301830 (3), X-linked recessive
ENSG00000131018	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 8, 610743 (3), Autosomal recessive
ENSG00000131055	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3), Autosomal recessive
ENSG00000131089	Epileptic encephalopathy, early infantile, 8, 300607 (3), X-linked recessive
ENSG00000131095	Alexander disease, 203450 (3), Autosomal dominant
ENSG00000131100	Cutis laxa, autosomal recessive, type IIC, 617402 (3), Autosomal recessive
ENSG00000131127	?Polydactyly, postaxial, type A6, 615226 (3), Autosomal recessive
ENSG00000131165	Pontocerebellar hypoplasia, type 8, 614961 (3), Autosomal recessive
ENSG00000131174	Linear skin defects with multiple congenital anomalies 2, 300887 (3), X-linked dominant
ENSG00000131183	?Fanconi renotubular syndrome 2, 613388 (3), Autosomal recessive; Hypercalcemia, infantile, 2, 616963 (3), Autosomal recessive; Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3), Autosomal dominant
ENSG00000131187	Angioedema, hereditary, type III, 610618 (3), Autosomal dominant; Factor XII deficiency, 234000 (3), Autosomal recessive
ENSG00000131238	Ceroid lipofuscinosis, neuronal, 1, 256730 (3), Autosomal recessive
ENSG00000131263	Tonne-Kalscheuer syndrome, 300978 (3), X-linked
ENSG00000131269	Anemia, sideroblastic, with ataxia, 301310 (3), X-linked recessive
ENSG00000131323	{?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3)
ENSG00000131398	Spinocerebellar ataxia 13, 605259 (3), Autosomal dominant
ENSG00000131435	{Osteoporosis, susceptibility to}, 166710 (3), Autosomal dominant
ENSG00000131462	Cortical dysplasia, complex, with other brain malformations 4, 615412 (3), Autosomal dominant
ENSG00000131469	?Diamond-Blackfan anemia 16, 617408 (3), Autosomal dominant
ENSG00000131470	Ovarian dysgenesis 3, 614324 (3), Autosomal recessive
ENSG00000131482	Glycogen storage disease Ia, 232200 (3), Autosomal recessive
ENSG00000131495	Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial
ENSG00000131504	Deafness, autosomal dominant 1, 124900 (3), Autosomal dominant; Seizures, cortical blindness, microcephaly syndrome, 616632 (3), Autosomal recessive
ENSG00000131652	Beaulieu-Boycott-Innes syndrome, 613680 (3), Autosomal recessive
ENSG00000131697	Nephronophthisis 4, 606966 (3), Autosomal recessive; Senior-Loken syndrome 4, 606996 (3), Autosomal recessive
ENSG00000131747	DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)
ENSG00000131779	?Peroxisome biogenesis disorder 14B, 614920 (3), Autosomal recessive
ENSG00000131808	Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3), Autosomal recessive
ENSG00000131828	Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3), X-linked dominant
ENSG00000131844	3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3), Autosomal recessive
ENSG00000131873	Temtamy preaxial brachydactyly syndrome, 605282 (3), Autosomal recessive
ENSG00000131910	Obesity, mild, early-onset, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial
ENSG00000131931	Dystonia 6, torsion, 602629 (3), Autosomal dominant
ENSG00000131943	Neurodegeneration with brain iron accumulation 4, 614298 (3), Autosomal recessive; ?Spastic paraplegia 43, autosomal recessive, 615043 (3), Autosomal recessive
ENSG00000131979	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3), Autosomal recessive, Autosomal dominant; Hyperphenylalaninemia, BH4-deficient, B, 233910 (3), Autosomal recessive
ENSG00000132024	Mental retardation, autosomal recessive 3, 608443 (3), Autosomal recessive
ENSG00000132031	Epiphyseal dysplasia, multiple, 5, 607078 (3), Autosomal dominant; {Osteoarthritis susceptibility 2}, 140600 (3), Autosomal dominant; ?Spondyloepimetaphyseal dysplasia, 608728 (3), Autosomal recessive
ENSG00000132153	Neurodevelopmental disorder with severe motor impairment and absent language, 617804 (3), Autosomal dominant
ENSG00000132155	Cardiomyopathy, dilated, 1NN, 615916 (3), Autosomal dominant; LEOPARD syndrome 2, 611554 (3); Noonan syndrome 5, 611553 (3), Autosomal dominant
ENSG00000132170	Carotid intimal medial thickness 1, 609338 (3); {Diabetes, type 2}, 125853 (3), Autosomal dominant; Insulin resistance, severe, digenic, 604367 (3), Autosomal dominant; Lipodystrophy, familial partial, type 3, 604367 (3), Autosomal dominant; [Obesity, resistance to] (3); Obesity, severe, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial
ENSG00000132326	Advanced sleep phase syndrome, familial, 1, 604348 (3), Autosomal dominant
ENSG00000132376	Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive
ENSG00000132386	Osteogenesis imperfecta, type VI, 613982 (3)
ENSG00000132437	Aromatic L-amino acid decarboxylase deficiency, 608643 (3), Autosomal recessive
ENSG00000132464	Amelogenesis imperfecta, type IB, 104500 (3), Autosomal dominant; Amelogenesis imperfecta, type IC, 204650 (3), Autosomal recessive
ENSG00000132470	Epidermolysis bullosa of hands and feet, 131800 (3), Autosomal dominant; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3), Autosomal recessive
ENSG00000132471	Deafness, autosomal recessive 107, 617639 (3), Autosomal recessive
ENSG00000132517	Riboflavin deficiency, 615026 (3), Autosomal dominant
ENSG00000132518	?Choroidal dystrophy, central areolar 1, 215500 (3), Autosomal recessive; Cone-rod dystrophy 6, 601777 (3), Autosomal recessive, Autosomal dominant; Leber congenital amaurosis 1, 204000 (3), Autosomal recessive
ENSG00000132549	Cohen syndrome, 216550 (3), Autosomal recessive
ENSG00000132563	?Spastic paraplegia 72, autosomal dominant, 615625 (3), Autosomal recessive, Autosomal dominant; ?Spastic paraplegia 72, autosomal recessive, 615625 (3), Autosomal recessive, Autosomal dominant
ENSG00000132591	Perrault syndrome 6, 617565 (3), Autosomal recessive
ENSG00000132600	Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3), Autosomal recessive
ENSG00000132639	?Myasthenic syndrome, congenital, 18, 616330 (3), Autosomal dominant
ENSG00000132646	?Ataxia-telangiectasia-like disorder 2, 615919 (3), Autosomal recessive
ENSG00000132669	Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3), Autosomal recessive
ENSG00000132716	?Giant axonal neuropathy 2, autosomal dominant, 610100 (3), Autosomal dominant
ENSG00000132740	Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3), Autosomal recessive; Neuronopathy, distal hereditary motor, type VI, 604320 (3), Autosomal recessive
ENSG00000132763	Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3), Autosomal recessive
ENSG00000132773	Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive
ENSG00000132781	Adenomas, multiple colorectal, 608456 (3), Autosomal recessive; Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3), Somatic mutation; Gastric cancer, somatic, 613659 (3)
ENSG00000132837	Dimethylglycine dehydrogenase deficiency, 605850 (3), Autosomal recessive
ENSG00000132842	Hermansky-Pudlak syndrome 2, 608233 (3), Autosomal recessive
ENSG00000132855	Hypobetalipoproteinemia, familial, 2, 605019 (3), Autosomal recessive
ENSG00000132915	Retinitis pigmentosa 43, 613810 (3)
ENSG00000132932	?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3), Autosomal recessive
ENSG00000132963	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3), Autosomal recessive; Proteasome-associated autoinflammatory syndrome 2, 618048 (3), Autosomal dominant
ENSG00000132965	{Stroke, susceptibility to}, 601367 (3), Multifactorial
ENSG00000133019	?Prune belly syndrome, 100100 (3), Autosomal recessive
ENSG00000133020	Carney complex variant, 608837 (3); Trismus-pseudocamptodactyly syndrome, 158300 (3), Autosomal dominant
ENSG00000133028	Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial
ENSG00000133048	{Asthma-related traits, susceptibility to, 7}, 611960 (3); {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant
ENSG00000133059	Congenital anomalies of kidney and urinary tract 1, 610805 (3), Autosomal dominant; Spastic paraplegia 23, 270750 (3), Autosomal recessive
ENSG00000133063	[Chitotriosidase deficiency], 614122 (3), Autosomal recessive
ENSG00000133103	Congenital disorder of glycosylation, type IIl, 614576 (3), Autosomal recessive; Shaheen syndrome, 615328 (3), Autosomal recessive
ENSG00000133104	Troyer syndrome, 275900 (3), Autosomal recessive
ENSG00000133111	Bare lymphocyte syndrome, type II, complementation group D, 209920 (3), Autosomal recessive
ENSG00000133116	?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3)
ENSG00000133216	{Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3)
ENSG00000133256	Night blindness, congenital stationary, autosomal dominant 2, 163500 (3), Autosomal dominant; Retinitis pigmentosa-40, 613801 (3), Autosomal recessive
ENSG00000133392	Aortic aneurysm, familial thoracic 4, 132900 (3), Autosomal dominant
ENSG00000133422	Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3), Autosomal dominant
ENSG00000133424	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3), Autosomal recessive
ENSG00000133454	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3), Autosomal recessive
ENSG00000133703	Arteriovenous malformation of the brain, somatic, 108010 (3); Bladder cancer, somatic, 109800 (3); Breast cancer, somatic, 114480 (3); Cardiofaciocutaneous syndrome 2, 615278 (3); Gastric cancer, somatic, 137215 (3); Leukemia, acute myeloid, 601626 (3), Autosomal dominant; Lung cancer, somatic, 211980 (3); Noonan syndrome 3, 609942 (3), Autosomal dominant; Pancreatic carcinoma, somatic, 260350 (3); RAS-associated autoimmune leukoproliferative disorder, 614470 (3), Autosomal dominant; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
ENSG00000133706	?Infantile liver failure syndrome 1, 615438 (3), Autosomal recessive
ENSG00000133710	Netherton syndrome, 256500 (3), Autosomal recessive
ENSG00000133731	Mental retardation, autosomal recessive 59, 617323 (3), Autosomal recessive
ENSG00000133805	[AMP deaminase deficiency, erythrocytic], 612874 (3), Autosomal recessive
ENSG00000133812	Charcot-Marie-Tooth disease, type 4B2, 604563 (3), Autosomal recessive
ENSG00000133818	Ovarian carcinoma (3)
ENSG00000133835	D-bifunctional protein deficiency, 261515 (3), Autosomal recessive; Perrault syndrome 1, 233400 (3), Autosomal recessive
ENSG00000133863	Spermatogenic failure 25, 617960 (3), Autosomal recessive
ENSG00000133884	Coffin-Siris syndrome 7, 618027 (3), Autosomal dominant
ENSG00000133895	Adrenal adenoma, somatic (3); Angiofibroma, somatic (3); Carcinoid tumor of lung (3); Lipoma, somatic (3); Multiple endocrine neoplasia 1, 131100 (3), Autosomal dominant; Parathyroid adenoma, somatic (3)
ENSG00000133937	Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 (3), Autosomal recessive
ENSG00000134049	Microcephaly, epilepsy, and diabetes syndrome, 614231 (3), Autosomal recessive
ENSG00000134086	Erythrocytosis, familial, 2, 263400 (3), Autosomal recessive; Hemangioblastoma, cerebellar, somatic (3); Pheochromocytoma, 171300 (3), Autosomal dominant; Renal cell carcinoma, somatic, 144700 (3); von Hippel-Lindau syndrome, 193300 (3), Autosomal dominant
ENSG00000134138	Cleft palate, cardiac defects, and mental retardation, 600987 (3), Autosomal dominant
ENSG00000134160	Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)
ENSG00000134183	Achromatopsia 4, 613856 (3)
ENSG00000134200	Hypothyroidism, congenital, nongoitrous 4, 275100 (3), Autosomal recessive
ENSG00000134240	HMG-CoA synthase-2 deficiency, 605911 (3), Autosomal recessive
ENSG00000134242	{Diabetes, type 1, susceptibility to}, 222100 (3), Autosomal recessive; {Rheumatoid arthritis, susceptibility to}, 180300 (3); {Systemic lupus erythematosus susceptibility to}, 152700 (3), Autosomal dominant
ENSG00000134243	[Low density lipoprotein cholesterol level QTL6], 613589 (3), Autosomal dominant
ENSG00000134250	Alagille syndrome 2, 610205 (3), Autosomal dominant; Hajdu-Cheney syndrome, 102500 (3), Autosomal dominant
ENSG00000134259	Neuropathy, hereditary sensory and autonomic, type V, 608654 (3), Autosomal recessive
ENSG00000134262	Spastic paraplegia 47, autosomal recessive, 614066 (3), Autosomal recessive
ENSG00000134313	Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 (3), Autosomal dominant
ENSG00000134323	Feingold syndrome 1, 164280 (3), Autosomal dominant
ENSG00000134324	Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3), Autosomal recessive
ENSG00000134333	Glycogen storage disease XI, 612933 (3), Autosomal recessive
ENSG00000134343	Dystonia 24, 615034 (3), Autosomal dominant
ENSG00000134371	Hyperparathyroidism, familial primary, 145000 (3), Autosomal dominant; Hyperparathyroidism-jaw tumor syndrome, 145001 (3), Autosomal dominant; Parathyroid adenoma with cystic changes, 145001 (3), Autosomal dominant; Parathyroid carcinoma, 608266 (3)
ENSG00000134376	Leber congenital amaurosis 8, 613835 (3); Pigmented paravenous chorioretinal atrophy, 172870 (3), Autosomal dominant; Retinitis pigmentosa-12, autosomal recessive, 600105 (3), Autosomal recessive
ENSG00000134389	Nephropathy due to CFHR5 deficiency, 614809 (3), Autosomal dominant
ENSG00000134438	Microphthalmia, isolated 3, 611038 (3), Autosomal recessive
ENSG00000134460	{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3); Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3), Autosomal recessive
ENSG00000134504	Scalp-ear-nipple syndrome, 181270 (3), Autosomal dominant
ENSG00000134516	Immunodeficiency 40, 616433 (3), Autosomal recessive
ENSG00000134532	Lamb-Shaffer syndrome, 616803 (3), Autosomal dominant
ENSG00000134538	Hyperbilirubinemia, Rotor type, digenic, 237450 (3), Digenic recessive
ENSG00000134569	Cenani-Lenz syndactyly syndrome, 212780 (3), Autosomal recessive; ?Myasthenic syndrome, congenital, 17, 616304 (3), Autosomal recessive; Sclerosteosis 2, 614305 (3), Autosomal recessive, Autosomal dominant
ENSG00000134571	Cardiomyopathy, dilated, 1MM, 615396 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 4, 115197 (3), Autosomal dominant; Left ventricular noncompaction 10, 615396 (3), Autosomal dominant
ENSG00000134574	Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3), Autosomal recessive
ENSG00000134595	Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3); Panhypopituitarism, X-linked, 312000 (3), X-linked
ENSG00000134640	{Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant
ENSG00000134644	Spinocerebellar ataxia 47, 617931 (3), Autosomal dominant
ENSG00000134684	Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3), Autosomal dominant
ENSG00000134755	Arrhythmogenic right ventricular dysplasia 11, 610476 (3), Autosomal recessive, Autosomal dominant; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3), Autosomal recessive, Autosomal dominant
ENSG00000134759	Mental retardation, autosomal recessive 58, 617270 (3), Autosomal recessive
ENSG00000134760	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3), Autosomal recessive; Keratosis palmoplantaris striata I, AD, 148700 (3), Autosomal dominant
ENSG00000134762	?Hypotrichosis and recurrent skin vesicles, 613102 (3), Autosomal recessive
ENSG00000134769	Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3), Autosomal dominant
ENSG00000134812	Intrinsic factor deficiency, 261000 (3), Autosomal recessive
ENSG00000134851	Congenital disorder of glycosylation, type IIk, 614727 (3), Autosomal recessive
ENSG00000134853	Gastrointestinal stromal tumor, somatic, 606764 (3); Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3), Isolated cases, Somatic mutation
ENSG00000134871	{Hemorrhage, intracerebral, susceptibility to}, 614519 (3); Porencephaly 2, 614483 (3), Autosomal dominant
ENSG00000134873	HELIX syndrome, 617671 (3), Autosomal recessive
ENSG00000134899	Cerebrooculofacioskeletal syndrome 3, 616570 (3), Autosomal recessive; Xeroderma pigmentosum, group G, 278780 (3), Autosomal recessive; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3), Autosomal recessive
ENSG00000134905	Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive
ENSG00000134910	?Congenital disorder of glycosylation, type Iw, 615596 (3), Autosomal recessive
ENSG00000134982	Adenoma, periampullary, somatic (3); Adenomatous polyposis coli, 175100 (3), Autosomal dominant; Brain tumor-polyposis syndrome 2, 175100 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Desmoid disease, hereditary, 135290 (3), Autosomal dominant; Gardner syndrome, 175100 (3), Autosomal dominant; Gastric cancer, somatic, 613659 (3); Hepatoblastoma, somatic, 114550 (3)
ENSG00000134987	Glaucoma 1, open angle, G, 609887 (3)
ENSG00000135069	Neu-Laxova syndrome 2, 616038 (3), Autosomal recessive; ?Phosphoserine aminotransferase deficiency, 610992 (3), Autosomal recessive
ENSG00000135070	Multiple mitochondrial dysfunctions syndrome 5, 617613 (3), Autosomal recessive
ENSG00000135100	Diabetes mellitus, insulin-dependent, 20, 612520 (3); {Diabetes mellitus, insulin-dependent}, 222100 (3), Autosomal recessive; {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3), Autosomal dominant; Hepatic adenoma, somatic, 142330 (3); MODY, type III, 600496 (3), Autosomal dominant; Renal cell carcinoma, 144700 (3)
ENSG00000135111	Ulnar-mammary syndrome, 181450 (3), Autosomal dominant
ENSG00000135218	{Coronary heart disease, susceptibility to, 7}, 610938 (3); [Macrothrombocytopenia] (1); {Malaria, cerebral, reduced risk of}, 611162 (3); {Malaria, cerebral, susceptibility to}, 611162 (3); Platelet glycoprotein IV deficiency, 608404 (3), Autosomal recessive
ENSG00000135241	?Mitochondrial myopathy with lactic acidosis, 251950 (3), Autosomal recessive
ENSG00000135297	Combined oxidative phosphorylation deficiency 10, 614702 (3), Autosomal recessive
ENSG00000135317	Spinocerebellar ataxia, autosomal recessive 20, 616354 (3), Autosomal recessive
ENSG00000135318	Calcification of joints and arteries, 211800 (3), Autosomal recessive
ENSG00000135324	{?Obesity, susceptibility to, BMIQ18}, 615457 (3), Autosomal dominant
ENSG00000135338	Leber congenital amaurosis 5, 604537 (3)
ENSG00000135341	Cardiospondylocarpofacial syndrome, 157800 (3), Autosomal dominant; Frontometaphyseal dysplasia 2, 617137 (3), Autosomal dominant
ENSG00000135406	{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant
ENSG00000135409	Persistent Mullerian duct syndrome, type II, 261550 (3), Autosomal recessive
ENSG00000135424	Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3), Autosomal recessive
ENSG00000135437	Fundus albipunctatus, 136880 (3), Autosomal recessive, Autosomal dominant
ENSG00000135443	Ectodermal dysplasia 4, hair/nail type, 602032 (3), Autosomal recessive
ENSG00000135446	{Melanoma, cutaneous malignant, 3}, 609048 (3), Autosomal dominant
ENSG00000135454	Spastic paraplegia 26, autosomal recessive, 609195 (3), Autosomal recessive
ENSG00000135486	Amyotrophic lateral sclerosis 20, 615426 (3), Autosomal dominant; ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424 (3), Autosomal dominant
ENSG00000135503	Pancreatic cancer, somatic (3)
ENSG00000135517	Cataract 15, multiple types, 615274 (3), Autosomal dominant
ENSG00000135535	?Deafness, autosomal dominant 66, 616969 (3), Autosomal dominant
ENSG00000135541	Joubert syndrome 3, 608629 (3), Autosomal recessive
ENSG00000135597	?Neurodegeneration with brain iron accumulation 7, 617916 (3), Autosomal recessive
ENSG00000135604	Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3), Autosomal recessive
ENSG00000135636	Miyoshi muscular dystrophy 1, 254130 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3), Autosomal recessive; Myopathy, distal, with anterior tibial onset, 606768 (3), Autosomal recessive
ENSG00000135677	Mucopolysaccharidosis type IIID, 252940 (3), Autosomal recessive
ENSG00000135679	{Accelerated tumor formation, susceptibility to}, 614401 (3)
ENSG00000135697	?Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 (3), Autosomal dominant
ENSG00000135744	{Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial; {Preeclampsia, susceptibility to} (3); Renal tubular dysgenesis, 267430 (3), Autosomal recessive
ENSG00000135766	Erythrocytosis, familial, 3, 609820 (3), Autosomal dominant; [Hemoglobin, high altitude adaptation], 609070 (3), Autosomal dominant
ENSG00000135775	?Congenital disorder of glycosylation, type IIq, 617395 (3), Autosomal recessive
ENSG00000135821	Glutamine deficiency, congenital, 610015 (3), Autosomal recessive
ENSG00000135828	Prostate cancer 1, 601518 (3), Autosomal dominant
ENSG00000135845	Glycosylphosphatidylinositol biosynthesis defect 16, 617816 (3), Autosomal recessive
ENSG00000135899	Hepatic venoocclusive disease with immunodeficiency, 235550 (3), Autosomal recessive; {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
ENSG00000135900	?Combined oxidative phosphorylation deficiency 16, 615395 (3), Autosomal recessive
ENSG00000135902	Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3), Autosomal dominant; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3), Autosomal recessive; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3), Autosomal recessive
ENSG00000135903	Craniofacial-deafness-hand syndrome, 122880 (3), Autosomal dominant; Rhabdomyosarcoma 2, alveolar, 268220 (3), Autosomal recessive; Waardenburg syndrome, type 1, 193500 (3), Autosomal dominant; Waardenburg syndrome, type 3, 148820 (3), Autosomal recessive, Autosomal dominant
ENSG00000135917	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3), Autosomal recessive
ENSG00000135924	Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 (3), Autosomal recessive
ENSG00000135925	Odontoonychodermal dysplasia, 257980 (3), Autosomal recessive; Schopf-Schulz-Passarge syndrome, 224750 (3), Autosomal recessive; Tooth agenesis, selective, 4, 150400 (3), Autosomal recessive, Autosomal dominant
ENSG00000135929	Cerebrotendinous xanthomatosis, 213700 (3), Autosomal recessive
ENSG00000135931	Joubert syndrome 30, 617622 (3), Autosomal recessive
ENSG00000135951	?Spermatogenic failure 26, 617961 (3), Autosomal recessive
ENSG00000135956	{Pheochromocytoma, susceptibility to}, 171300 (3), Autosomal dominant
ENSG00000135960	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3), Autosomal dominant; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3), Autosomal recessive; [Hair morphology 1, hair thickness], 612630 (3)
ENSG00000136003	Myopathy with lactic acidosis, hereditary, 255125 (3), Autosomal recessive
ENSG00000136051	?Mental retardation, autosomal recessive 43, 615817 (3), Autosomal recessive
ENSG00000136068	Atelosteogenesis, type I, 108720 (3), Autosomal dominant; Atelosteogenesis, type III, 108721 (3), Autosomal dominant; Boomerang dysplasia, 112310 (3), Autosomal dominant; Larsen syndrome, 150250 (3), Autosomal dominant; Spondylocarpotarsal synostosis syndrome, 272460 (3), Autosomal recessive
ENSG00000136104	Aicardi-Goutieres syndrome 2, 610181 (3), Autosomal recessive
ENSG00000136111	{Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3)
ENSG00000136143	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3), Autosomal recessive
ENSG00000136144	Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive
ENSG00000136156	Dementia, familial British, 176500 (3), Autosomal dominant; Dementia, familial Danish, 117300 (3), Autosomal dominant; ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, 616079 (3), Autosomal dominant
ENSG00000136158	{?IgA nephropathy, susceptibility to, 3}, 616818 (3), Autosomal dominant
ENSG00000136159	{Thiopurines, poor metabolism of, 2}, 616903 (3), Autosomal dominant
ENSG00000136160	ABCD syndrome, 600501 (3), Autosomal recessive; {Hirschsprung disease, susceptibility to, 2}, 600155 (3), Autosomal dominant; Waardenburg syndrome, type 4A, 277580 (3), Autosomal recessive, Autosomal dominant
ENSG00000136235	Amyloidosis, primary localized cutaneous, 3, 617920 (3), Autosomal recessive
ENSG00000136238	Mental retardation, autosomal dominant 48, 617751 (3), Autosomal dominant
ENSG00000136244	{Crohn disease-associated growth failure}, 266600 (3), Multifactorial; {Diabetes, susceptibility to},, 222100 (3), Autosomal recessive; {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3), Autosomal dominant; {Kaposi sarcoma, susceptibility to}, 148000 (3), Autosomal dominant; {Rheumatoid arthritis, systemic juvenile}, 604302 (3)
ENSG00000136280	Cerebral cavernous malformations-2, 603284 (3), Autosomal dominant
ENSG00000136352	Chorea, hereditary benign, 118700 (3), Autosomal dominant; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3), Autosomal dominant; {Thyroid cancer, nonmedullary, 1}, 188550 (3), Autosomal dominant
ENSG00000136367	?Marsili syndrome, 147430 (3), Autosomal dominant
ENSG00000136383	Cardiomyopathy, familial hypertrophic 27, 618052 (3), Autosomal recessive
ENSG00000136425	Deafness, autosomal recessive 48, 609439 (3), Autosomal recessive; Usher syndrome, type IJ, 614869 (3), Autosomal recessive
ENSG00000136463	Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial
ENSG00000136492	Breast cancer, early-onset, 114480 (3), Autosomal dominant; Fanconi anemia, complementation group J, 609054 (3)
ENSG00000136531	Epileptic encephalopathy, early infantile, 11, 613721 (3), Autosomal dominant; Seizures, benign familial infantile, 3, 607745 (3), Autosomal dominant
ENSG00000136573	Maturity-onset diabetes of the young, type 11, 613375 (3), Autosomal dominant
ENSG00000136574	Atrial septal defect 2, 607941 (3), Autosomal dominant; Atrioventricular septal defect 4, 614430 (3), Autosomal dominant; ?Testicular anomalies with or without congenital heart disease, 615542 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant; Ventricular septal defect 1, 614429 (3), Autosomal dominant
ENSG00000136628	Leukodystrophy, hypomyelinating, 15, 617951 (3), Autosomal recessive
ENSG00000136631	Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3), Autosomal recessive
ENSG00000136634	{Graft-versus-host disease, protection against}, 614395 (3); {HIV-1, susceptibility to}, 609423 (3); {Rheumatoid arthritis, progression of}, 180300 (3)
ENSG00000136689	{Gastric cancer risk after H. pylori infection}, 137215 (3), Autosomal dominant; Interleukin 1 receptor antagonist deficiency, 612852 (3), Autosomal recessive; {Microvascular complications of diabetes 4}, 612628 (3)
ENSG00000136695	Psoriasis 14, pustular, 614204 (3), Autosomal recessive
ENSG00000136698	Heterotaxy, visceral, 2, autosomal, 605376 (3), Autosomal dominant
ENSG00000136710	Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive
ENSG00000136717	Centronuclear myopathy 2, 255200 (3), Autosomal recessive
ENSG00000136720	{Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3), Autosomal dominant
ENSG00000136732	[Blood group, Gerbich], 616089 (3); {Malaria, resistance to}, 611162 (3)
ENSG00000136758	?Optic atrophy 11, 617302 (3), Autosomal recessive
ENSG00000136802	?Agammaglobulinemia 5, 613506 (3), Autosomal dominant
ENSG00000136827	{Dystonia-1, modifier of} (3); Dystonia-1, torsion, 128100 (3), Autosomal dominant
ENSG00000136854	Epileptic encephalopathy, early infantile, 4, 612164 (3), Autosomal dominant
ENSG00000136861	Microcephaly 3, primary, autosomal recessive, 604804 (3), Autosomal recessive
ENSG00000136872	Fructose intolerance, hereditary, 229600 (3), Autosomal recessive
ENSG00000136875	Retinitis pigmentosa 70, 615922 (3), Autosomal dominant
ENSG00000136881	Hypercholanemia, familial, 607748 (3)
ENSG00000136908	Congenital disorder of glycosylation, type Iu, 615042 (3), Autosomal recessive
ENSG00000136928	Epileptic encephalopathy, early infantile, 59, 617904 (3), Autosomal dominant; Neurodevelopmental disorder with poor language and loss of hand skills, 617903 (3), Autosomal dominant; {Nicotine dependence, protection against}, 188890 (3); {Nicotine dependence, susceptibility to}, 188890 (3)
ENSG00000136931	Adrenocortical insufficiency, 612964 (3), Autosomal dominant; Premature ovarian failure 7, 612964 (3), Autosomal dominant; Spermatogenic failure 8, 613957 (3), Autosomal dominant; 46, XX sex reversal 4, 617480 (3), Autosomal dominant; 46XY sex reversal 3, 612965 (3), Autosomal dominant
ENSG00000136936	Xeroderma pigmentosum, group A, 278700 (3), Autosomal recessive
ENSG00000136944	Nail-patella syndrome, 161200 (3), Autosomal dominant
ENSG00000136997	Burkitt lymphoma, 113970 (3), Isolated cases
ENSG00000137055	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive
ENSG00000137070	Craniosynostosis and dental anomalies, 614188 (3), Autosomal recessive
ENSG00000137074	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3), Autosomal recessive
ENSG00000137106	Hyperoxaluria, primary, type II, 260000 (3), Autosomal recessive
ENSG00000137161	Epileptic encephalopathy, early infantile, 60, 617929 (3), Autosomal recessive
ENSG00000137203	Branchiooculofacial syndrome, 113620 (3), Autosomal dominant
ENSG00000137265	[Skin/hair/eye pigmentation, variation in, 8], 611724 (3)
ENSG00000137267	Cortical dysplasia, complex, with other brain malformations 5, 615763 (3), Autosomal dominant
ENSG00000137275	Immunodeficiency 57, 618108 (3), Autosomal recessive
ENSG00000137285	Cortical dysplasia, complex, with other brain malformations 7, 610031 (3), Autosomal dominant
ENSG00000137288	Mitochondrial complex III deficiency, nuclear type 7, 615824 (3), Autosomal recessive
ENSG00000137309	{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant
ENSG00000137364	{Thiopurines, poor metabolism of, 1}, 610460 (3), Autosomal recessive
ENSG00000137411	Combined oxidative phosphorylation deficiency 20, 615917 (3), Autosomal recessive
ENSG00000137462	{Colorectal cancer, susceptibility to}, 114500 (3), Autosomal dominant; {Leprosy, susceptibility to}, 246300 (3), Autosomal dominant; {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
ENSG00000137474	Deafness, autosomal dominant 11, 601317 (3), Autosomal dominant; Deafness, autosomal recessive 2, 600060 (3), Autosomal recessive; Usher syndrome, type 1B, 276900 (3), Autosomal recessive
ENSG00000137497	Leukemia, acute promyelocytic, somatic, 612376 (3)
ENSG00000137513	Combined oxidative phosphorylation deficiency 24, 616239 (3), Autosomal recessive
ENSG00000137561	Ataxia with isolated vitamin E deficiency, 277460 (3), Autosomal recessive
ENSG00000137601	{Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892 (3); Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3), Autosomal recessive, Digenic recessive
ENSG00000137672	Glomerulosclerosis, focal segmental, 2, 603965 (3), Autosomal dominant
ENSG00000137674	Amelogenesis imperfecta, type IIA2, 612529 (3), Autosomal recessive
ENSG00000137691	Ciliary dyskinesia, primary, 38, 618063 (3), Autosomal recessive
ENSG00000137693	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433 (3), Autosomal dominant
ENSG00000137700	Glycogen storage disease Ib, 232220 (3), Autosomal recessive; Glycogen storage disease Ic, 232240 (3), Autosomal recessive
ENSG00000137710	Deafness, autosomal recessive 24, 611022 (3), Autosomal recessive
ENSG00000137713	Lung cancer, 211980 (3), Autosomal recessive
ENSG00000137731	Hypomagnesemia 2, renal, 154020 (3), Autosomal dominant
ENSG00000137745	Metaphyseal anadysplasia 1, 602111 (3), Autosomal dominant; Metaphyseal dysplasia, Spahr type, 250400 (3), Autosomal recessive; Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3), Autosomal dominant
ENSG00000137802	Nephronophthisis 20, 617271 (3), Autosomal recessive
ENSG00000137806	Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000137812	Microcephaly 4, primary, autosomal recessive, 604321 (3), Autosomal recessive
ENSG00000137822	Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3), Autosomal recessive
ENSG00000137834	Aortic valve disease 2, 614823 (3), Autosomal dominant; {Craniosynostosis 7, susceptibility to}, 617439 (3), Autosomal dominant
ENSG00000137845	{Alzheimer disease 18, susceptibility to}, 615590 (3); Reticulate acropigmentation of Kitamura, 615537 (3), Autosomal dominant
ENSG00000137868	Microphthalmia, isolated, with coloboma 8, 601186 (3), Autosomal recessive; Microphthalmia, syndromic 9, 601186 (3), Autosomal recessive
ENSG00000137869	Aromatase deficiency, 613546 (3); Aromatase excess syndrome, 139300 (3), Autosomal dominant
ENSG00000137948	?Spermatogenic failure 21, 617644 (3), Autosomal recessive
ENSG00000137992	Maple syrup urine disease, type II, 248600 (3), Autosomal recessive
ENSG00000138002	Retinitis pigmentosa 71, 616394 (3), Autosomal recessive; Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3), Autosomal recessive
ENSG00000138029	Trifunctional protein deficiency, 609015 (3), Autosomal recessive
ENSG00000138030	[Fructosuria], 229800 (3), Autosomal recessive
ENSG00000138031	{Obesity, susceptibility to, BMIQ19}, 617885 (3)
ENSG00000138035	Combined oxidative phosphorylation deficiency 13, 614932 (3), Autosomal recessive; Deafness, autosomal recessive 70, 614934 (3), Autosomal recessive
ENSG00000138036	Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3), Autosomal recessive
ENSG00000138039	Leydig cell adenoma, somatic, with precocious puberty, 176410 (3); Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3), Autosomal recessive; Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3), Autosomal recessive; Luteinizing hormone resistance, female, 238320 (3), Autosomal recessive; Precocious puberty, male, 176410 (3), Autosomal dominant
ENSG00000138061	Anterior segment dysgenesis 6, multiple subtypes, 617315 (3); Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3), Autosomal recessive
ENSG00000138075	Sitosterolemia, 210250 (3), Autosomal recessive
ENSG00000138078	Myasthenic syndrome, congenital, 22, 616224 (3), Autosomal recessive
ENSG00000138079	Cystinuria, 220100 (3), Autosomal recessive, Autosomal dominant
ENSG00000138081	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 (3), Autosomal dominant
ENSG00000138083	Holoprosencephaly 2, 157170 (3), Autosomal dominant; Schizencephaly, 269160 (3)
ENSG00000138095	Leigh syndrome, French-Canadian type, 220111 (3), Autosomal recessive
ENSG00000138109	Tolbutamide poor metabolizer (3); Warfarin sensitivity, 122700 (3), Autosomal dominant
ENSG00000138115	{Drug metabolism, altered, CYP2C8-related}, 618018 (3)
ENSG00000138138	Hyperekplexia 4, 618011 (3), Autosomal recessive
ENSG00000138160	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 (3), Autosomal dominant
ENSG00000138180	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3), Autosomal recessive
ENSG00000138185	Spastic paraplegia 64, autosomal recessive, 615683 (3), Autosomal recessive
ENSG00000138193	Nephrotic syndrome, type 3, 610725 (3), Autosomal recessive
ENSG00000138207	Microphthalmia, isolated, with coloboma 10, 616428 (3), Autosomal dominant; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3), Autosomal recessive
ENSG00000138303	Barrett esophagus/esophageal adenocarcinoma, 614266 (3); ?Spinal muscular atrophy with congenital bone fractures 2, 616867 (3), Autosomal recessive
ENSG00000138311	{Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)
ENSG00000138326	Diamond-blackfan anemia 3, 610629 (3), Autosomal dominant
ENSG00000138346	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3), Autosomal dominant; ?Seckel syndrome 8, 615807 (3), Autosomal recessive
ENSG00000138347	Cardiomyopathy, dilated, 1KK, 615248 (3), Autosomal dominant; Cardiomyopathy, familial restrictive, 4, 615248 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 22, 615248 (3), Autosomal dominant; Nemaline myopathy 11, autosomal recessive, 617336 (3), Autosomal recessive
ENSG00000138363	AICA-ribosiduria due to ATIC deficiency, 608688 (3), Autosomal recessive
ENSG00000138375	Schimke immunoosseous dysplasia, 242900 (3), Autosomal recessive
ENSG00000138376	{Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant
ENSG00000138378	{Systemic lupus erythematosus, susceptibility to, 11}, 612253 (3)
ENSG00000138379	Muscle hypertrophy, 614160 (3)
ENSG00000138411	Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 (3), Autosomal dominant
ENSG00000138413	{Glioma, susceptibility to, somatic}, 137800 (3)
ENSG00000138435	Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 (3), Autosomal dominant; Myasthenic syndrome, congenital, 1B, fast-channel, 608930 (3), Autosomal recessive, Autosomal dominant
ENSG00000138449	Hemochromatosis, type 4, 606069 (3), Autosomal dominant
ENSG00000138592	Pituitary adenoma 4, ACTH-secreting, somatic, 219090 (3)
ENSG00000138615	{Lumbar disc disease, susceptibility to}, 603932 (3)
ENSG00000138622	Brugada syndrome 8, 613123 (3); Sick sinus syndrome 2, 163800 (3), Autosomal dominant
ENSG00000138623	[Blood group, John-Milton-Hagen system], 614745 (3)
ENSG00000138675	Trichomegaly, 190330 (3), Autosomal recessive
ENSG00000138684	?Immunodeficiency, common variable, 11, 615767 (3), Autosomal recessive
ENSG00000138686	Bardet-Biedl syndrome 7, 615984 (3), Autosomal recessive
ENSG00000138688	Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive
ENSG00000138696	Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive; Brachydactyly, type A1, D, 616849 (3), Autosomal dominant; Brachydactyly, type A2, 112600 (3), Autosomal dominant
ENSG00000138698	Lymphocytic leukemia, acute T-cell (3)
ENSG00000138738	Brittle cornea syndrome 2, 614170 (3), Autosomal recessive
ENSG00000138741	?Spinocerebellar ataxia 41, 616410 (3), Autosomal dominant
ENSG00000138759	Fraser syndrome 1, 219000 (3), Autosomal recessive
ENSG00000138760	Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3), Autosomal recessive
ENSG00000138777	?Sudden cardiac failure, alcohol-induced, 617223 (3), Autosomal recessive; Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive
ENSG00000138778	?Microcephaly 13, primary, autosomal recessive, 616051 (3), Autosomal recessive
ENSG00000138795	Sebaceous tumors, somatic (3)
ENSG00000138796	3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3), Autosomal recessive; Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3), Autosomal recessive
ENSG00000138798	Hypomagnesemia 4, renal, 611718 (3)
ENSG00000138814	Epileptic encephalopathy, infantile or early childhood, 1, 617711 (3), Autosomal dominant
ENSG00000138821	Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive
ENSG00000138823	Abetalipoproteinemia, 200100 (3), Autosomal recessive; {Metabolic syndrome, protection against}, 605552 (3), Autosomal dominant
ENSG00000138829	Contractural arachnodactyly, congenital, 121050 (3), Autosomal dominant; Macular degeneration, early-onset, 616118 (3), Autosomal dominant
ENSG00000139053	Achromatopsia 6, 610024 (3), Autosomal recessive, Autosomal dominant; Retinal cone dystrophy 3, 610024 (3), Autosomal recessive, Autosomal dominant
ENSG00000139083	Leukemia, acute myeloid, somatic, 601626 (3); Thrombocytopenia 5, 616216 (3), Autosomal dominant
ENSG00000139116	Fibrosis of extraocular muscles, congenital, 1, 135700 (3), Autosomal dominant; Fibrosis of extraocular muscles, congenital, 3B, 135700 (3), Autosomal dominant
ENSG00000139131	Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3), Autosomal recessive
ENSG00000139132	Charcot-Marie-Tooth disease, type 4H, 609311 (3), Autosomal recessive
ENSG00000139133	{Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3), Autosomal dominant
ENSG00000139151	?Spermatogenic failure 17, 617214 (3), Autosomal recessive
ENSG00000139174	Epilepsy, progressive myoclonic 1B, 612437 (3), Autosomal recessive
ENSG00000139180	Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial
ENSG00000139190	Spastic ataxia 1, autosomal dominant, 108600 (3), Autosomal dominant
ENSG00000139193	Lymphoproliferative syndrome 2, 615122 (3), Autosomal recessive
ENSG00000139197	Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3), Autosomal recessive; Peroxisome biogenesis disorder 2B, 202370 (3), Autosomal recessive; Rhizomelic chondrodysplasia punctata, type 5, 616716 (3), Autosomal recessive
ENSG00000139219	Achondrogenesis, type II or hypochondrogenesis, 200610 (3), Autosomal dominant; Avascular necrosis of the femoral head, 608805 (3), Autosomal dominant; Czech dysplasia, 609162 (3), Autosomal dominant; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3), Autosomal dominant; Kniest dysplasia, 156550 (3), Autosomal dominant; Legg-Calve-Perthes disease, 150600 (3), Autosomal dominant; Osteoarthritis with mild chondrodysplasia, 604864 (3), Autosomal dominant; Platyspondylic skeletal dysplasia, Torrance type, 151210 (3), Autosomal dominant; SED congenita, 183900 (3), Autosomal dominant; SMED Strudwick type, 184250 (3), Autosomal dominant; Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3), Autosomal dominant; Spondyloperipheral dysplasia, 271700 (3), Autosomal dominant; Stickler sydrome, type I, nonsyndromic ocular, 609508 (3), Autosomal dominant; Stickler syndrome, type I, 108300 (3), Autosomal dominant; Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
ENSG00000139287	{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3); {Unipolar depression, susceptibility to}, 608516 (3)
ENSG00000139304	Deafness, autosomal dominant 73, 617663 (3), Autosomal dominant; Deafness, autosomal recessive 84A, 613391 (3), Autosomal recessive
ENSG00000139318	Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3), Autosomal dominant
ENSG00000139323	Cone-rod dystrophy 20, 615973 (3), Autosomal recessive
ENSG00000139324	Lissencephaly 8, 617255 (3), Autosomal recessive
ENSG00000139330	Cornea plana 2, autosomal recessive, 217300 (3), Autosomal recessive
ENSG00000139351	Pregnancy loss, recurrent, 4, 270960 (3), Autosomal dominant; Spermatogenic failure 4, 270960 (3), Autosomal dominant
ENSG00000139352	Central hypoventilation syndrome, congenital, 209880 (3), Autosomal dominant; Haddad syndrome, 209880 (3), Autosomal dominant
ENSG00000139428	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3), Autosomal recessive
ENSG00000139515	{Diabetes mellitus, type II, susceptibility to}, 125853 (3), Autosomal dominant; MODY, type IV, 606392 (3); Pancreatic agenesis 1, 260370 (3), Autosomal recessive
ENSG00000139531	Sulfite oxidase deficiency, 272300 (3), Autosomal recessive
ENSG00000139537	Ciliary dyskinesia, primary, 27, 615504 (3), Autosomal recessive
ENSG00000139540	Myopia 24, autosomal dominant, 615946 (3), Autosomal dominant
ENSG00000139549	46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3); 46XY sex reversal 7, 233420 (3), Autosomal recessive
ENSG00000139567	Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3), Autosomal dominant
ENSG00000139618	{Breast cancer, male, susceptibility to}, 114480 (3), Autosomal dominant; {Breast-ovarian cancer, familial, 2}, 612555 (3), Autosomal dominant; Fanconi anemia, complementation group D1, 605724 (3), Autosomal recessive; {Glioblastoma 3}, 613029 (3), Autosomal recessive; {Medulloblastoma}, 155255 (3), Autosomal recessive, Autosomal dominant; {Pancreatic cancer 2}, 613347 (3); {Prostate cancer}, 176807 (3), Autosomal dominant; Wilms tumor, 194070 (3), Autosomal dominant, Somatic mutation
ENSG00000139648	?Hypotrichosis 13, 615896 (3), Autosomal dominant
ENSG00000139679	Hypotrichosis 8, 278150 (3), Autosomal recessive; Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 (3), Autosomal recessive
ENSG00000139687	Bladder cancer, somatic, 109800 (3); Osteosarcoma, somatic, 259500 (3); Retinoblastoma, 180200 (3), Autosomal dominant, Somatic mutation; Retinoblastoma, trilateral, 180200 (3), Autosomal dominant, Somatic mutation; Small cell cancer of the lung, somatic, 182280 (3)
ENSG00000139719	Mucopolysaccharidosis-plus syndrome, 617303 (3), Autosomal recessive
ENSG00000139734	Auditory neuropathy, autosomal dominant, 1, 609129 (3), Autosomal dominant
ENSG00000139988	Leber congenital amaurosis 13, 612712 (3), Autosomal recessive, Autosomal dominant
ENSG00000140057	?Spermatogenic failure 27, 617965 (3), Autosomal recessive
ENSG00000140090	Amelogenesis imperfecta, type IIA5, 615887 (3), Autosomal recessive; [Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3), Autosomal recessive; [Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3), Autosomal recessive
ENSG00000140092	Cutis laxa, autosomal dominant 2, 614434 (3); Cutis laxa, autosomal recessive, type IA, 219100 (3), Autosomal recessive; Macular degeneration, age-related, 3, 608895 (3), Autosomal dominant; Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3), Autosomal dominant
ENSG00000140105	Neuronopathy, distal hereditary motor, type IX, 617721 (3)
ENSG00000140199	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3), Autosomal recessive
ENSG00000140262	Craniosynostosis 3, 615314 (3), Autosomal dominant
ENSG00000140274	Thyroid dyshormonogenesis 5, 274900 (3), Autosomal recessive
ENSG00000140279	Thyroid dyshormonogenesis 6, 607200 (3), Autosomal recessive
ENSG00000140287	{Gilles de la Tourette syndrome, susceptibility to}, 137580 (3), Autosomal dominant
ENSG00000140326	Dyserythropoietic anemia, congenital, type Ia, 224120 (3), Autosomal recessive
ENSG00000140368	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3), Autosomal dominant
ENSG00000140374	Glutaric acidemia IIA, 231680 (3), Autosomal recessive
ENSG00000140416	Cardiomyopathy, dilated, 1Y, 611878 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 3, 115196 (3), Autosomal dominant; Left ventricular noncompaction 9, 611878 (3), Autosomal dominant
ENSG00000140443	Insulin-like growth factor I, resistance to, 270450 (3), Autosomal recessive, Autosomal dominant
ENSG00000140459	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
ENSG00000140463	Bardet-Biedl syndrome 4, 615982 (3), Autosomal recessive
ENSG00000140464	Leukemia, acute promyelocytic, PML/RARA type (3)
ENSG00000140470	Weill-Marchesani 4 syndrome, recessive, 613195 (3), Autosomal recessive
ENSG00000140471	Mental retardation, autosomal recessive 27, 614340 (3), Autosomal recessive
ENSG00000140521	Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3), Autosomal recessive; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3), Autosomal recessive; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3), Autosomal dominant; Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3), Autosomal recessive
ENSG00000140522	Bothnia retinal dystrophy, 607475 (3), Autosomal recessive; Fundus albipunctatus, 136880 (3), Autosomal recessive, Autosomal dominant; Newfoundland rod-cone dystrophy, 607476 (3); Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant
ENSG00000140525	Fanconi anemia, complementation group I, 609053 (3), Autosomal recessive
ENSG00000140598	Shwachman-Diamond syndrome 2, 617941 (3), Autosomal recessive
ENSG00000140623	Spermatogenic failure 10, 614822 (3), Autosomal dominant
ENSG00000140650	Congenital disorder of glycosylation, type Ia, 212065 (3), Autosomal recessive
ENSG00000140675	Renal glucosuria, 233100 (3), Autosomal recessive, Autosomal dominant
ENSG00000140691	ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3), Autosomal dominant, Somatic mutation
ENSG00000140694	Dyskeratosis congenita, autosomal recessive 6, 616353 (3), Autosomal recessive; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 (3), Autosomal dominant
ENSG00000140718	Growth retardation, developmental delay, facial dysmorphism, 612938 (3), Autosomal recessive; {Obesity, susceptibility to, BMIQ14}, 612460 (3), Autosomal recessive
ENSG00000140740	Mitochondrial complex III deficiency, nuclear type 5, 615160 (3), Autosomal recessive
ENSG00000140836	{Prostate cancer, susceptibility to, somatic}, 176807 (3)
ENSG00000140854	Lissencephaly 6, with microcephaly, 616212 (3), Autosomal recessive
ENSG00000140873	Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3), Autosomal recessive
ENSG00000140905	?Glycine encephalopathy, 605899 (3), Autosomal recessive
ENSG00000140937	Elsahy-Waters syndrome, 211380 (3), Autosomal recessive
ENSG00000140939	Myoclonus, familial cortical, 614937 (3), Autosomal dominant
ENSG00000140968	Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3), Autosomal dominant; Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 (3), Autosomal recessive
ENSG00000141012	Mucopolysaccharidosis IVA, 253000 (3), Autosomal recessive
ENSG00000141013	Ciliary dyskinesia, primary, 33, 616726 (3), Autosomal recessive
ENSG00000141161	?Cataract 43, 616279 (3), Autosomal dominant
ENSG00000141252	Pontocerebellar hypoplasia, type 2E, 615851 (3), Autosomal recessive
ENSG00000141337	Usher syndrome, type IV, 618144 (3)
ENSG00000141349	Dursun syndrome, 612541 (3), Autosomal recessive; Neutropenia, severe congenital 4, autosomal recessive, 612541 (3), Autosomal recessive
ENSG00000141367	Mental retardation, autosomal dominant 56, 617854 (3)
ENSG00000141378	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 (3), Autosomal recessive
ENSG00000141384	?Spermatogenic failure 13, 615841 (3), Autosomal recessive
ENSG00000141385	Spastic ataxia 5, autosomal recessive, 614487 (3), Autosomal recessive; Spinocerebellar ataxia 28, 610246 (3), Autosomal dominant
ENSG00000141404	Dystonia 25, 615073 (3), Autosomal dominant
ENSG00000141431	Bainbridge-Ropers syndrome, 615485 (3), Autosomal dominant
ENSG00000141448	Atrial septal defect 9, 614475 (3), Autosomal dominant; Atrioventricular septal defect 5, 614474 (3), Autosomal dominant; Pancreatic agenesis and congenital heart defects, 600001 (3), Autosomal dominant; Persistent truncus arteriosus, 217095 (3); Tetralogy of Fallot, 187500 (3), Autosomal dominant
ENSG00000141449	Renal hypodysplasia/aplasia 3, 617805 (3), Autosomal dominant
ENSG00000141458	Niemann-Pick disease, type C1, 257220 (3), Autosomal recessive; Niemann-Pick disease, type D, 257220 (3), Autosomal recessive
ENSG00000141469	[Blood group, Kidd], 111000 (3)
ENSG00000141485	Epileptic encephalopathy, early infantile, 25, 615905 (3), Autosomal recessive
ENSG00000141497	?Spermatogenic failure 14, 615842 (3), Autosomal recessive
ENSG00000141499	Dyskeratosis congenita, autosomal recessive 3, 613988 (3), Autosomal recessive
ENSG00000141506	Ataxia-oculomotor apraxia 3, 615217 (3), Autosomal recessive
ENSG00000141510	Adrenal cortical carcinoma, 202300 (3), Autosomal recessive; {Basal cell carcinoma 7}, 614740 (3); Breast cancer, 114480 (3), Autosomal dominant; Choroid plexus papilloma, 260500 (3), Autosomal dominant; Colorectal cancer, 114500 (3), Autosomal dominant; {Glioma susceptibility 1}, 137800 (3), Autosomal dominant, Somatic mutation; Hepatocellular carcinoma, 114550 (3), Somatic mutation; Li-Fraumeni syndrome, 151623 (3), Autosomal dominant; Nasopharyngeal carcinoma, 607107 (3); Osteosarcoma, 259500 (3), Autosomal recessive; Pancreatic cancer, 260350 (3), Autosomal dominant, Somatic mutation, Multifactorial
ENSG00000141519	Ciliary dyskinesia, primary, 15, 613808 (3)
ENSG00000141522	Nephrotic syndrome, type 8, 615244 (3), Autosomal recessive
ENSG00000141524	Epidermodysplasia verruciformis, 226400 (3), Autosomal recessive
ENSG00000141527	Pityriasis rubra pilaris, 173200 (3), Autosomal dominant; Psoriasis 2, 602723 (3), Autosomal dominant
ENSG00000141543	Robin sequence with cleft mandible and limb anomalies, 268305 (3), Autosomal recessive
ENSG00000141551	Advanced sleep-phase syndrome, familial, 2, 615224 (3), Autosomal dominant
ENSG00000141556	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive
ENSG00000141579	Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)
ENSG00000141580	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive
ENSG00000141627	Dyggve-Melchior-Clausen disease, 223800 (3), Autosomal recessive; Smith-McCort dysplasia, 607326 (3), Autosomal recessive
ENSG00000141646	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3), Autosomal dominant; Myhre syndrome, 139210 (3), Autosomal dominant; Pancreatic cancer, somatic, 260350 (3); Polyposis, juvenile intestinal, 174900 (3), Autosomal dominant
ENSG00000141655	Osteolysis, familial expansile, 174810 (3), Autosomal dominant; Osteopetrosis, autosomal recessive 7, 612301 (3), Autosomal recessive; {Paget disease of bone 2, early-onset}, 602080 (3), Autosomal dominant
ENSG00000141736	Adenocarcinoma of lung, somatic, 211980 (3); Gastric cancer, somatic, 613659 (3); Glioblastoma, somatic, 137800 (3); Ovarian cancer, somatic (3)
ENSG00000141756	Bruck syndrome 1, 259450 (3), Autosomal recessive; Osteogenesis imperfecta, type XI, 610968 (3), Autosomal recessive
ENSG00000141759	Burn-McKeown syndrome, 608572 (3), Autosomal recessive
ENSG00000141837	Epileptic encephalopathy, early infantile, 42, 617106 (3), Autosomal dominant; Episodic ataxia, type 2, 108500 (3), Autosomal dominant; Migraine, familial hemiplegic, 1, 141500 (3), Autosomal dominant; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3), Autosomal dominant; Spinocerebellar ataxia 6, 183086 (3), Autosomal dominant
ENSG00000142089	{Influenza, severe, susceptibility to}, 614680 (3)
ENSG00000142156	Bethlem myopathy 1, 158810 (3), Autosomal recessive, Autosomal dominant; Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal recessive, Autosomal dominant
ENSG00000142168	Amyotrophic lateral sclerosis 1, 105400 (3), Autosomal recessive, Autosomal dominant
ENSG00000142173	Bethlem myopathy 1, 158810 (3), Autosomal recessive, Autosomal dominant; ?Myosclerosis, congenital, 255600 (3), Autosomal recessive; Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal recessive, Autosomal dominant
ENSG00000142178	Epileptic encephalopathy, early infantile, 30, 616341 (3), Autosomal dominant
ENSG00000142186	Spinocerebellar ataxia, autosomal recessive 21, 616719 (3), Autosomal recessive
ENSG00000142192	Alzheimer disease 1, familial, 104300 (3), Autosomal dominant; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3), Autosomal dominant
ENSG00000142208	Breast cancer, somatic, 114480 (3); Colorectal cancer, somatic, 114500 (3); Cowden syndrome 6, 615109 (3); Ovarian cancer, somatic, 167000 (3); Proteus syndrome, somatic, 176920 (3); {Schizophrenia, susceptibility to}, 181500 (2), Autosomal dominant
ENSG00000142303	Weill-Marchesani syndrome 1, recessive, 277600 (3), Autosomal recessive
ENSG00000142319	{Nicotine dependence, protection against}, 188890 (3); Parkinsonism-dystonia, infantile, 1, 613135 (3), Autosomal recessive
ENSG00000142330	{Diabetes mellitus, noninsulin-dependent 1}, 601283 (3)
ENSG00000142405	Familial cold autoinflammatory syndrome 2, 611762 (3), Autosomal dominant
ENSG00000142513	Amelogenesis imperfecta, type IJ, 617297 (3), Autosomal recessive
ENSG00000142599	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 (3), Autosomal dominant
ENSG00000142611	Cardiomyopathy, dilated, 1LL, 615373 (3), Autosomal dominant; Left ventricular noncompaction 8, 615373 (3), Autosomal dominant
ENSG00000142619	Uncombable hair syndrome, 191480 (3), Autosomal recessive
ENSG00000142627	Cataract 6, multiple types, 116600 (3), Autosomal dominant
ENSG00000142655	Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3), Autosomal recessive
ENSG00000142676	Diamond-Blackfan anemia 7, 612562 (3), Autosomal dominant
ENSG00000142731	Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3), Autosomal recessive
ENSG00000142748	Immunodeficiency due to ficolin 3 deficiency, 613860 (3), Autosomal recessive
ENSG00000142798	Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3), Autosomal recessive; Schwartz-Jampel syndrome, type 1, 255800 (3), Autosomal recessive
ENSG00000142867	?Immunodeficiency 37, 616098 (3), Autosomal recessive; Lymphoma, MALT, somatic, 137245 (3); {Lymphoma, follicular, somatic}, 605027 (3); {Male germ cell tumor, somatic},, 273300 (3); {Mesothelioma, somatic}, 156240 (3); {Sezary syndrome, somatic} (3)
ENSG00000142949	?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3), Autosomal recessive
ENSG00000143061	?Lacrimal duct defect, 149700 (3), Autosomal recessive
ENSG00000143178	Adrenocorticotropic hormone deficiency, 201400 (3), Autosomal recessive
ENSG00000143183	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3), Autosomal recessive
ENSG00000143199	{Hypercalciuria, absorptive, susceptibility to}, 143870 (3), Autosomal dominant
ENSG00000143217	Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3), Autosomal recessive
ENSG00000143222	Neurodevelopmental disorder with spasticity and poor growth, 618076 (3), Autosomal recessive
ENSG00000143224	Porphyria variegata, 176200 (3), Autosomal dominant
ENSG00000143226	{Lupus nephritis, susceptibility to}, 152700 (3), Autosomal dominant; {Malaria, severe, susceptibility to}, 611162 (3); {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3), Autosomal recessive
ENSG00000143252	Gastrointestinal stromal tumor, 606764 (3), Autosomal dominant, Isolated cases; Paraganglioma and gastric stromal sarcoma, 606864 (3); Paragangliomas 3, 605373 (3), Autosomal dominant
ENSG00000143278	Factor XIIIB deficiency, 613235 (3), Autosomal recessive
ENSG00000143294	Renal cell carcinoma, papillary, 605074 (3)
ENSG00000143315	Glycosylphosphatidylinositol deficiency, 610293 (3), Autosomal recessive
ENSG00000143318	Myopathy, vacuolar, with CASQ1 aggregates, 616231 (3), Autosomal dominant
ENSG00000143324	Basal ganglia calcification, idiopathic, 6, 616413 (3), Autosomal dominant
ENSG00000143337	?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072 (3), Autosomal recessive
ENSG00000143341	{Macular degeneration, age-related, 1}, 603075 (3), Autosomal dominant
ENSG00000143363	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive
ENSG00000143365	Immunodeficiency 42, 616622 (3), Autosomal recessive
ENSG00000143368	Acrofacial dysostosis 1, Nager type, 154400 (3), Autosomal dominant
ENSG00000143369	Urbach-Wiethe disease, 247100 (3), Autosomal recessive
ENSG00000143373	Paget disease of bone 6, 616833 (3), Autosomal dominant
ENSG00000143374	?Combined oxidative phosphorylation deficiency 21, 615918 (3), Autosomal recessive
ENSG00000143382	Ectopia lentis et pupillae, 225200 (3), Autosomal recessive; Ectopia lentis, isolated, autosomal recessive, 225100 (3), Autosomal recessive
ENSG00000143387	Pycnodysostosis, 265800 (3), Autosomal recessive
ENSG00000143390	Bare lymphocyte syndrome, type II, complementation group C, 209920 (3), Autosomal recessive; Bare lymphocyte syndrome, type II, complementation group E, 209920 (3), Autosomal recessive
ENSG00000143416	Extraoral halitosis due to MTO deficiency, 618148 (3)
ENSG00000143442	White-Sutton syndrome, 616364 (3), Autosomal dominant
ENSG00000143469	?Spinocerebellar ataxia, autosomal recessive 11, 614229 (3), Autosomal recessive
ENSG00000143473	Temple-Baraitser syndrome, 611816 (3), Autosomal dominant; Zimmermann-Laband syndrome 1, 135500 (3), Autosomal dominant
ENSG00000143520	Peeling skin syndrome 6, 618084 (3), Autosomal recessive
ENSG00000143549	CAP myopathy 1, 609284 (3), Autosomal recessive, Autosomal dominant; Myopathy, congenital, with fiber-type disproportion, 255310 (3), Autosomal recessive, Autosomal dominant; Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3), Autosomal recessive, Autosomal dominant
ENSG00000143575	Neutropenia, severe congenital 3, autosomal recessive, 610738 (3), Autosomal recessive
ENSG00000143614	Mental retardation, autosomal dominant 18, 615074 (3), Autosomal dominant
ENSG00000143622	Noonan syndrome 8, 615355 (3), Autosomal dominant
ENSG00000143627	Adenosine triphosphate, elevated, of erythrocytes, 102900 (3), Autosomal dominant; Pyruvate kinase deficiency, 266200 (3), Autosomal recessive
ENSG00000143631	{Dermatitis, atopic, susceptibility to, 2}, 605803 (3); Ichthyosis vulgaris, 146700 (3), Autosomal dominant
ENSG00000143632	Myopathy, actin, congenital, with cores, 161800 (3), Autosomal recessive, Autosomal dominant; Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3), Autosomal recessive, Autosomal dominant; Myopathy, congenital, with fiber-type disproportion 1, 255310 (3), Autosomal recessive, Autosomal dominant; ?Myopathy, scapulohumeroperoneal, 616852 (3), Autosomal dominant; Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3), Autosomal recessive, Autosomal dominant
ENSG00000143669	Chediak-Higashi syndrome, 214500 (3), Autosomal recessive
ENSG00000143801	Alzheimer disease-4, 606889 (3), Autosomal dominant; Cardiomyopathy, dilated, 1V, 613697 (3), Autosomal dominant
ENSG00000143811	Leukodystrophy, hypomyelinating, 10, 616420 (3), Autosomal recessive
ENSG00000143815	Greenberg skeletal dysplasia, 215140 (3), Autosomal recessive; Pelger-Huet anomaly, 169400 (3), Autosomal dominant; Pelger-Huet anomaly with mild skeletal anomalies, 618019 (3); ?Reynolds syndrome, 613471 (3), Autosomal dominant
ENSG00000143819	?Hypercholanemia, familial, 607748 (3)
ENSG00000143839	[Hyperproreninemia] (3); Hyperuricemic nephropathy, familial juvenile 2, 613092 (3), Autosomal dominant; Renal tubular dysgenesis, 267430 (3), Autosomal recessive
ENSG00000143858	Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3), Autosomal dominant
ENSG00000143921	{Gallbladder disease 4}, 611465 (3); Sitosterolemia, 210250 (3), Autosomal recessive
ENSG00000143933	Long QT syndrome 15, 616249 (3), Autosomal dominant
ENSG00000143951	?Bardet-Biedl syndrome 15, 615992 (3), Autosomal recessive; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3), Autosomal recessive
ENSG00000143970	Shashi-Pena syndrome, 617190 (3), Autosomal dominant
ENSG00000144028	Retinitis pigmentosa 33, 610359 (3), Autosomal dominant
ENSG00000144034	Galloway-Mowat syndrome 5, 617731 (3), Autosomal recessive
ENSG00000144061	Joubert syndrome 4, 609583 (3), Autosomal recessive; Nephronophthisis 1, juvenile, 256100 (3), Autosomal recessive; Senior-Loken syndrome-1, 266900 (3), Autosomal recessive
ENSG00000144182	Lipoyltransferase 1 deficiency, 616299 (3), Autosomal recessive
ENSG00000144191	Achromatopsia 2, 216900 (3), Autosomal recessive
ENSG00000144285	Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 (3), Autosomal dominant; Febrile seizures, familial, 3A, 604403 (3), Autosomal dominant; Migraine, familial hemiplegic, 3, 609634 (3), Autosomal dominant
ENSG00000144320	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 (3), Autosomal recessive
ENSG00000144354	Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910 (3), Autosomal recessive
ENSG00000144381	Leukodystrophy, hypomyelinating, 4, 612233 (3), Autosomal recessive; Spastic paraplegia 13, autosomal dominant, 605280 (3), Autosomal dominant
ENSG00000144406	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive
ENSG00000144452	Ichthyosis, congenital, autosomal recessive 4A, 601277 (3), Autosomal recessive; Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3), Autosomal recessive
ENSG00000144455	Multiple sulfatase deficiency, 272200 (3), Autosomal recessive
ENSG00000144535	Perlman syndrome, 267000 (3), Autosomal recessive
ENSG00000144554	Fanconi anemia, complementation group D2, 227646 (3), Autosomal recessive
ENSG00000144591	Alacrima, achalasia, and mental retardation syndrome, 615510 (3), Autosomal recessive
ENSG00000144647	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 (3), Autosomal recessive
ENSG00000144659	Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3), Autosomal recessive
ENSG00000144730	Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3), Autosomal recessive, Autosomal dominant
ENSG00000144741	Combined oxidative phosphorylation deficiency 28, 616794 (3), Autosomal recessive
ENSG00000144891	{Hypertension, essential}, 145500 (3), Multifactorial; Renal tubular dysgenesis, 267430 (3), Autosomal recessive
ENSG00000144962	?Spermatogenic failure 6, 102530 (3), Autosomal recessive
ENSG00000145012	Leukemia, acute myeloid, 601626 (3), Autosomal dominant; Lipoma (3)
ENSG00000145016	?Spinocerebellar ataxia, autosomal recessive 15, 615705 (3), Autosomal recessive
ENSG00000145020	Glycine encephalopathy, 605899 (3), Autosomal recessive
ENSG00000145103	Deafness, autosomal recessive 42, 609646 (3), Autosomal recessive
ENSG00000145191	Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive; Ovarioleukodystrophy, 603896 (3), Autosomal recessive
ENSG00000145192	?Alopecia-mental retardation syndrome 1, 203650 (3), Autosomal recessive
ENSG00000145217	?Nephrolithiasis, calcium oxalate, 167030 (3), Autosomal recessive
ENSG00000145244	Preeclampsia/eclampsia 5, 614595 (3)
ENSG00000145331	Microcephaly, short stature, and impaired glucose metabolism 1, 616033 (3), Autosomal recessive
ENSG00000145335	Dementia, Lewy body, 127750 (3), Autosomal dominant; Parkinson disease 1, 168601 (3), Autosomal dominant; Parkinson disease 4, 605543 (3), Autosomal dominant
ENSG00000145348	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive
ENSG00000145354	Wolfram syndrome 2, 604928 (3), Autosomal recessive
ENSG00000145362	Cardiac arrhythmia, ankyrin-B-related, 600919 (3), Autosomal dominant; Long QT syndrome 4, 600919 (3), Autosomal dominant
ENSG00000145375	Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive
ENSG00000145476	Bietti crystalline corneoretinal dystrophy, 210370 (3), Autosomal recessive
ENSG00000145494	Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000145623	Amyloidosis, primary localized cutaneous, 1, 105250 (3), Autosomal dominant
ENSG00000145675	?Agammaglobulinemia 7, autosomal recessive, 615214 (3), Autosomal recessive; Immunodeficiency 36, 616005 (3), Autosomal dominant; SHORT syndrome, 269880 (3), Autosomal dominant
ENSG00000145715	Basal cell carcinoma, somatic, 605462 (3); Capillary malformation-arteriovenous malformation, 608354 (3), Autosomal dominant; Parkes Weber syndrome, 608355 (3), Autosomal dominant
ENSG00000145794	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3), Autosomal recessive; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3), Autosomal recessive
ENSG00000145819	Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
ENSG00000145864	Epileptic encephalopathy, infantile or early childhood, 2, 617829 (3), Autosomal dominant
ENSG00000145868	Neuronopathy, distal hereditary motor, type IID, 615575 (3), Autosomal dominant
ENSG00000145888	Hyperekplexia 1, 149400 (3), Autosomal recessive, Autosomal dominant
ENSG00000145912	Dyskeratosis congenita, autosomal recessive 2, 613987 (3), Autosomal recessive
ENSG00000145936	{Hypertension, diastolic, resistance to}, 608622 (3), Autosomal dominant
ENSG00000145979	Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3), Autosomal recessive
ENSG00000145982	Combined oxidative phosphorylation deficiency 14, 614946 (3), Autosomal recessive; Spastic paraplegia 77, autosomal recessive, 617046 (3), Autosomal recessive
ENSG00000146021	Pseudohypoaldosteronism, type IID, 614495 (3), Autosomal recessive, Autosomal dominant
ENSG00000146038	?Deafness, autosomal recessive 66, 610212 (3), Autosomal recessive; Nephronophthisis 19, 616217 (3), Autosomal recessive; Sclerosing cholangitis, neonatal, 617394 (3), Autosomal recessive
ENSG00000146070	{Asthma, susceptibility to}, 600807 (3), Autosomal dominant; {Atopy, susceptibility to}, 147050 (3), Autosomal dominant; Platelet-activating factor acetylhydrolase deficiency, 614278 (3), Autosomal recessive
ENSG00000146085	Methylmalonic aciduria, mut(0) type, 251000 (3), Autosomal recessive
ENSG00000146247	Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991 (3), Autosomal dominant
ENSG00000146282	Pontocerebellar hypoplasia, type 6, 611523 (3), Autosomal recessive
ENSG00000146648	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3), Autosomal recessive; ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3), Autosomal recessive; Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3), Autosomal recessive; {Nonsmall cell lung cancer, susceptibility to}, 211980 (3), Autosomal recessive
ENSG00000146701	Epileptic encephalopathy, early infantile, 51, 617339 (3), Autosomal recessive
ENSG00000146733	Phosphoserine phosphatase deficiency, 614023 (3), Autosomal recessive
ENSG00000146872	Mental retardation, autosomal dominant 57, 618050 (3), Autosomal dominant
ENSG00000146926	Glaucoma 1, open angle, F, 603383 (3)
ENSG00000146938	{Asperger syndrome susceptibility, X-linked 2}, 300497 (3), Isolated cases, X-linked, Multifactorial; {Autism susceptibility, X-linked 2}, 300495 (3), Isolated cases, X-linked, Multifactorial; Mental retardation, X-linked, 300495 (3), Isolated cases, X-linked, Multifactorial
ENSG00000147044	FG syndrome 4, 300422 (3); Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3), X-linked dominant; Mental retardation, with or without nystagmus, 300422 (3)
ENSG00000147050	Kabuki syndrome 2, 300867 (3), X-linked dominant
ENSG00000147065	Immunodeficiency 50, 300988 (3), X-linked recessive
ENSG00000147099	Cornelia de Lange syndrome 5, 300882 (3), X-linked dominant
ENSG00000147100	Allan-Herndon-Dudley syndrome, 300523 (3), X-linked
ENSG00000147123	Linear skin defects with multiple congenital anomalies 3, 300952 (3), X-linked dominant; ?Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000147133	Dystonia-Parkinsonism, X-linked, 314250 (3), X-linked recessive; Mental retardation, X-linked, syndromic 33, 300966 (3), X-linked recessive
ENSG00000147140	Mental retardation, X-linked, syndromic 34, 300967 (3), X-linked
ENSG00000147155	Chondrodysplasia punctata, X-linked dominant, 302960 (3), X-linked dominant; MEND syndrome, 300960 (3), X-linked recessive
ENSG00000147162	Mental retardation, X-linked 106, 300997 (3), X-linked recessive
ENSG00000147168	Combined immunodeficiency, X-linked, moderate, 312863 (3), X-linked recessive; Severe combined immunodeficiency, X-linked, 300400 (3), X-linked recessive
ENSG00000147180	Mental retardation, X-linked 97, 300803 (3), X-linked
ENSG00000147202	?Premature ovarian failure 2A, 300511 (3), X-linked dominant
ENSG00000147224	Arts syndrome, 301835 (3), X-linked recessive; Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3), X-linked recessive; Deafness, X-linked 1, 304500 (3), X-linked; Gout, PRPS-related, 300661 (3), X-linked recessive; Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3), X-linked recessive
ENSG00000147255	Hypothyroidism, central, and testicular enlargement, 300888 (3), X-linked recessive
ENSG00000147257	Simpson-Golabi-Behmel syndrome, type 1, 312870 (3), X-linked recessive; Wilms tumor, somatic, 194070 (3)
ENSG00000147274	?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3), X-linked recessive
ENSG00000147316	Microcephaly 1, primary, autosomal recessive, 251200 (3), Autosomal recessive
ENSG00000147383	CHILD syndrome, 308050 (3), X-linked dominant; CK syndrome, 300831 (3), X-linked recessive
ENSG00000147403	{Autism, susceptibility to, X-linked 5}, 300847 (3); Mental retardation, X-linked, syndromic, 35, 300998 (3), X-linked recessive
ENSG00000147416	Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 (3), Autosomal dominant; Zimmermann-Laband syndrome 2, 616455 (3), Autosomal dominant
ENSG00000147437	?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3), Autosomal recessive
ENSG00000147465	Lipoid adrenal hyperplasia, 201710 (3), Autosomal recessive
ENSG00000147471	Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive
ENSG00000147475	Spastic paraplegia 18, autosomal recessive, 611225 (3), Autosomal recessive
ENSG00000147548	Leukemia, acute myeloid, 601626 (3), Autosomal dominant
ENSG00000147647	Dihydropyrimidinuria, 222748 (3), Autosomal recessive
ENSG00000147655	?Humerofemoral hypoplasia with radiotibial ray deficiency, 618022 (3), Autosomal recessive; Tetraamelia syndrome 2, 618021 (3), Autosomal recessive
ENSG00000147684	?Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000147804	Acrodermatitis enteropathica, 201100 (3), Autosomal recessive
ENSG00000147852	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3), Autosomal recessive
ENSG00000147889	Melanoma and neural system tumor syndrome, 155755 (3), Autosomal dominant; {Melanoma, cutaneous malignant, 2}, 155601 (3), Autosomal dominant; Orolaryngeal cancer, multiple (3); Pancreatic cancer/melanoma syndrome, 606719 (3), Autosomal dominant
ENSG00000147894	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3), Autosomal dominant
ENSG00000147955	?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3), Autosomal recessive; ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3), Autosomal recessive
ENSG00000148019	Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive
ENSG00000148053	Epileptic encephalopathy, early infantile, 58, 617830 (3), Autosomal dominant; Obesity, hyperphagia, and developmental delay, 613886 (3), Autosomal dominant
ENSG00000148090	3-methylglutaconic aciduria, type I, 250950 (3), Autosomal recessive
ENSG00000148180	Amyloidosis, Finnish type, 105120 (3), Autosomal dominant
ENSG00000148204	Focal segmental glomerulosclerosis 9, 616220 (3), Autosomal recessive; Ventriculomegaly with cystic kidney disease, 219730 (3), Autosomal recessive
ENSG00000148218	{Lead poisoning, susceptibility to}, 612740 (3), Autosomal recessive; Porphyria, acute hepatic, 612740 (3), Autosomal recessive
ENSG00000148290	Charcot-Marie-Tooth disease, type 4K, 616684 (3), Autosomal recessive; Leigh syndrome, due to COX IV deficiency, 256000 (3), Autosomal recessive, Mitochondrial
ENSG00000148356	Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3), Autosomal recessive, Autosomal dominant
ENSG00000148384	Joubert syndrome 1, 213300 (3), Autosomal recessive; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3), Autosomal recessive
ENSG00000148400	Adams-Oliver syndrome 5, 616028 (3), Autosomal dominant; Aortic valve disease 1, 109730 (3), Autosomal dominant
ENSG00000148408	?Dystonia 23, 614860 (3), Autosomal dominant
ENSG00000148459	Coenzyme Q10 deficiency, primary, 2, 614651 (3), Autosomal recessive
ENSG00000148516	Corneal dystrophy, Fuchs endothelial, 6, 613270 (3); Corneal dystrophy, posterior polymorphous, 3, 609141 (3)
ENSG00000148600	Cone-rod dystrophy 15, 613660 (3), Autosomal recessive; Retinitis pigmentosa 65, 613660 (3), Autosomal recessive
ENSG00000148604	Retinitis pigmentosa 44, 613769 (3)
ENSG00000148606	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3), Autosomal recessive
ENSG00000148655	Albinism, oculocutaneous, type VII, 615179 (3), Autosomal recessive
ENSG00000148672	Hyperinsulinism-hyperammonemia syndrome, 606762 (3), Autosomal dominant
ENSG00000148700	Cerebral palsy, spastic quadriplegic, 3, 617008 (3), Autosomal recessive
ENSG00000148702	{?Thyroid cancer, nonmedullary, 5}, 616535 (3), Autosomal dominant; {Venous thromboembolism, susceptibility to}, 188050 (3), Autosomal dominant
ENSG00000148704	?Microphthalmia, syndromic 11, 614402 (3), Autosomal recessive
ENSG00000148737	{Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant
ENSG00000148795	17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3), Autosomal recessive; 17,20-lyase deficiency, isolated, 202110 (3), Autosomal recessive
ENSG00000148826	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3), Autosomal recessive
ENSG00000148842	Hypomagnesemia 6, renal, 613882 (3), Autosomal dominant; Hypomagnesemia, seizures, and mental retardation, 616418 (3), Autosomal recessive, Autosomal dominant
ENSG00000148985	Hyperphosphatasia with mental retardation syndrome 3, 614207 (3), Autosomal recessive
ENSG00000149131	Angioedema, hereditary, types I and II, 106100 (3), Autosomal recessive, Autosomal dominant; Complement component 4, partial deficiency of, 120790 (3), Autosomal dominant
ENSG00000149177	Colon cancer, somatic, 114500 (3)
ENSG00000149196	Leukodystrophy, hypomyelinating, 13, 616881 (3), Autosomal recessive
ENSG00000149256	Essential tremor, hereditary, 5, 616736 (3), Autosomal dominant
ENSG00000149257	Osteogenesis imperfecta, type X, 613848 (3), Autosomal recessive; {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
ENSG00000149260	Vitreoretinopathy, neovascular inflammatory, 193235 (3), Autosomal dominant
ENSG00000149311	Ataxia-telangiectasia, 208900 (3), Autosomal recessive; {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant; Lymphoma, B-cell non-Hodgkin, somatic (3); Lymphoma, mantle cell, somatic (3); T-cell prolymphocytic leukemia, somatic (3)
ENSG00000149418	Ichthyosis, congenital, autosomal recessive 11, 602400 (3), Autosomal recessive
ENSG00000149483	Joubert syndrome 16, 614465 (3), Autosomal recessive
ENSG00000149489	Retinitis pigmentosa 7, digenic form, 608133 (3), Autosomal recessive, Autosomal dominant
ENSG00000149506	Oocyte maturation defect 1, 615774 (3), Autosomal recessive
ENSG00000149534	{Atopy, susceptibility to}, 147050 (3), Autosomal dominant
ENSG00000149541	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 (3), Autosomal recessive
ENSG00000149573	Deafness, autosomal recessive 111, 618145 (3)
ENSG00000149575	Atrial fibrillation, familial, 14, 615378 (3), Autosomal dominant
ENSG00000149596	Cardiomyopathy, hypertrophic, 17, 613873 (3), Autosomal dominant
ENSG00000149781	Leukocyte adhesion deficiency, type III, 612840 (3), Autosomal recessive
ENSG00000149922	Spondylocostal dysostosis 5, 122600 (3), Autosomal recessive, Autosomal dominant
ENSG00000149925	Glycogen storage disease XII, 611881 (3), Autosomal recessive
ENSG00000149968	{Coronary heart disease, susceptibility to, 6}, 614466 (3)
ENSG00000149970	Mental retardation, X-linked, syndromic, Houge type, 301008 (3), X-linked
ENSG00000150275	Deafness, autosomal recessive 23, 609533 (3), Autosomal recessive; Usher syndrome, type 1D/F digenic, 601067 (3), Autosomal recessive, Digenic recessive; Usher syndrome, type 1F, 602083 (3), Autosomal recessive
ENSG00000150337	[IgG receptor I, phagocytic, familial deficiency of] (3)
ENSG00000150455	{Bacteremia, protection against}, 614382 (3); {Malaria, protection against}, 611162 (3); {Pneumococcal disease, invasive, protection against}, 610799 (3); {Tuberculosis, protection against}, 607948 (3)
ENSG00000150540	{Asthma, susceptibility to}, 600807 (3), Autosomal dominant; Mental retardation, autosomal recessive 51, 616739 (3), Autosomal recessive
ENSG00000150630	Lymphedema, hereditary, ID, 615907 (3), Autosomal dominant
ENSG00000150753	Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3), Autosomal recessive
ENSG00000150768	Pyruvate dehydrogenase E2 deficiency, 245348 (3), Autosomal recessive
ENSG00000150787	Hyperphenylalaninemia, BH4-deficient, A, 261640 (3), Autosomal recessive
ENSG00000150893	Fraser syndrome 2, 617666 (3), Autosomal recessive
ENSG00000150907	Rhabdomyosarcoma, alveolar, 268220 (3), Autosomal recessive
ENSG00000150961	Cole-Carpenter syndrome 2, 616294 (3), Autosomal recessive
ENSG00000150995	Gillespie syndrome, 206700 (3), Autosomal recessive, Autosomal dominant; Spinocerebellar ataxia 15, 606658 (3), Autosomal dominant; Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3), Autosomal dominant
ENSG00000151062	Retinal cone dystrophy 4, 610478 (3), Autosomal recessive
ENSG00000151067	Brugada syndrome 3, 611875 (3); Timothy syndrome, 601005 (3), Autosomal dominant
ENSG00000151090	Thyroid hormone resistance, 188570 (3), Autosomal dominant; Thyroid hormone resistance, autosomal recessive, 274300 (3), Autosomal recessive; Thyroid hormone resistance, selective pituitary, 145650 (3), Autosomal dominant
ENSG00000151092	Congenital disorder of deglycosylation, 615273 (3), Autosomal recessive
ENSG00000151148	Kaufman oculocerebrofacial syndrome, 244450 (3), Autosomal recessive
ENSG00000151150	?Mental retardation, autosomal recessive, 37, 615493 (3), Autosomal recessive
ENSG00000151224	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3), Autosomal recessive, Autosomal dominant; Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3), Autosomal recessive, Autosomal dominant
ENSG00000151247	{Autism, susceptibility to, 19}, 615091 (3)
ENSG00000151348	Exostoses, multiple, type 2, 133701 (3), Autosomal dominant; ?Seizures, scoliosis, and macrocephaly syndrome, 616682 (3), Autosomal recessive
ENSG00000151413	Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000151445	Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3), Autosomal recessive
ENSG00000151474	?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3), Autosomal recessive
ENSG00000151490	Nephrotic syndrome, type 6, 614196 (3), Autosomal recessive
ENSG00000151491	?Deafness, autosomal recessive 102, 615974 (3), Autosomal recessive
ENSG00000151498	Isobutyryl-CoA dehydrogenase deficiency, 611283 (3)
ENSG00000151503	Microcephaly 22, primary, autosomal recessive, 617984 (3), Autosomal recessive
ENSG00000151552	Hyperphenylalaninemia, BH4-deficient, C, 261630 (3), Autosomal recessive
ENSG00000151577	{Essential tremor, hereditary, 1}, 190300 (3), Autosomal dominant; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant
ENSG00000151611	Methylmalonic aciduria, vitamin B12-responsive, 251100 (3), Autosomal recessive
ENSG00000151617	Mandibulofacial dysostosis with alopecia, 616367 (3), Autosomal dominant; {Migraine, resistance to}, 157300 (3), Autosomal dominant
ENSG00000151623	Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3); Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3), Autosomal dominant
ENSG00000151632	46XY sex reversal 8, 614279 (3), Autosomal recessive
ENSG00000151694	?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3), Autosomal recessive
ENSG00000151702	Bleeding disorder, platelet-type, 21, 617443 (3), Autosomal recessive, Autosomal dominant
ENSG00000151704	Bartter syndrome, type 2, 241200 (3), Autosomal recessive
ENSG00000151729	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3), Autosomal dominant; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3), Autosomal dominant
ENSG00000151779	Infantile liver failure syndrome 2, 616483 (3), Autosomal recessive; Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3), Autosomal recessive
ENSG00000151790	[?Hypertryptophanemia], 600627 (3), Autosomal recessive
ENSG00000151806	?Epileptic encephalopathy, early infantile, 40, 617065 (3), Autosomal recessive
ENSG00000151834	{Alcohol dependence, susceptibility to}, 103780 (3), Multifactorial
ENSG00000151835	Spastic ataxia, Charlevoix-Saguenay type, 270550 (3), Autosomal recessive
ENSG00000151849	Microcephaly 6, primary, autosomal recessive, 608393 (3), Autosomal recessive; ?Seckel syndrome 4, 613676 (3), Autosomal recessive
ENSG00000151914	Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3), Autosomal recessive; ?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3), Autosomal recessive
ENSG00000151929	Cardiomyopathy, dilated, 1HH, 613881 (3), Autosomal dominant; Myopathy, myofibrillar, 6, 612954 (3), Autosomal dominant
ENSG00000152056	{Psoriasis 15, pustular, susceptibility to}, 616106 (3), Autosomal dominant
ENSG00000152104	?Choanal atresia and lymphedema, 613611 (3), Autosomal recessive
ENSG00000152137	Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3), Autosomal dominant; Neuropathy, distal hereditary motor, type IIA, 158590 (3), Autosomal dominant
ENSG00000152208	Spinocerebellar ataxia, autosomal recessive 18, 616204 (3), Autosomal recessive
ENSG00000152217	Mental retardation, autosomal dominant 29, 616078 (3), Autosomal dominant; Schinzel-Giedion midface retraction syndrome, 269150 (3), Autosomal dominant
ENSG00000152223	Vici syndrome, 242840 (3), Autosomal recessive
ENSG00000152234	?Combined oxidative phosphorylation deficiency 22, 616045 (3), Autosomal recessive; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3), Autosomal recessive
ENSG00000152266	Hypoparathyroidism, autosomal dominant, 146200 (3), Autosomal dominant; Hypoparathyroidism, autosomal recessive, 146200 (3), Autosomal dominant
ENSG00000152422	Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive
ENSG00000152457	Omenn syndrome, 603554 (3), Autosomal recessive; Severe combined immunodeficiency, Athabascan type, 602450 (3), Autosomal recessive
ENSG00000152492	?Deafness, autosomal dominant 44, 607453 (3), Autosomal dominant
ENSG00000152503	?Anencephaly, 206500 (3), Autosomal recessive
ENSG00000152556	Glycogen storage disease VII, 232800 (3), Autosomal recessive
ENSG00000152578	Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 (3), Autosomal dominant
ENSG00000152591	Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3), Autosomal dominant; Dentin dysplasia, type II, 125420 (3), Autosomal dominant; Dentinogenesis imperfecta, Shields type II, 125490 (3), Autosomal dominant; Dentinogenesis imperfecta, Shields type III, 125500 (3), Autosomal dominant
ENSG00000152592	Hypophosphatemic rickets, AR, 241520 (3), Autosomal recessive
ENSG00000152620	?2,4-dienoyl-CoA reductase deficiency, 616034 (3), Autosomal recessive
ENSG00000152642	Brugada syndrome 2, 611777 (3)
ENSG00000152661	Atrioventricular septal defect 3, 600309 (3), Autosomal dominant; Craniometaphyseal dysplasia, autosomal recessive, 218400 (3), Autosomal recessive; Erythrokeratodermia variabilis et progressiva 3, 617525 (3), Autosomal dominant; Hypoplastic left heart syndrome 1, 241550 (3), Autosomal recessive; Oculodentodigital dysplasia, 164200 (3), Autosomal dominant; Oculodentodigital dysplasia, autosomal recessive, 257850 (3), Autosomal recessive; Palmoplantar keratoderma with congenital alopecia, 104100 (3), Autosomal dominant; Syndactyly, type III, 186100 (3), Autosomal dominant
ENSG00000152669	Ciliary dyskinesia, primary, 29, 615872 (3), Autosomal recessive
ENSG00000152700	Chylomicron retention disease, 246700 (3), Autosomal recessive
ENSG00000152779	Cataract 47, juvenile, with microcornea, 612018 (3), Autosomal dominant
ENSG00000152784	?Epilepsy, progressive myoclonic, 10, 616640 (3), Autosomal recessive
ENSG00000152795	Muscular dystrophy, limb-girdle, autosomal dominant 3, 609115 (3), Autosomal dominant
ENSG00000152822	Spinocerebellar ataxia 44, 617691 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 13, 614831 (3), Autosomal recessive
ENSG00000152939	Deafness, autosomal recessive 49, 610153 (3), Autosomal recessive
ENSG00000152952	Bruck syndrome 2, 609220 (3), Autosomal recessive
ENSG00000152977	Craniosynostosis 6, 616602 (3), Autosomal dominant
ENSG00000153015	Retinitis pigmentosa with or without skeletal anomalies, 250410 (3), Autosomal recessive
ENSG00000153113	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3), Autosomal recessive
ENSG00000153187	Epileptic encephalopathy, early infantile, 54, 617391 (3), Autosomal dominant
ENSG00000153201	{Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3), Autosomal dominant
ENSG00000153208	Retinitis pigmentosa 38, 613862 (3), Autosomal recessive
ENSG00000153253	Epilepsy, familial focal, with variable foci 4, 617935 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 62, 617938 (3), Autosomal dominant
ENSG00000153283	C syndrome, 211750 (3), Autosomal dominant
ENSG00000153487	Squamous cell carcinoma, head and neck, somatic, 275355 (3)
ENSG00000153563	CD8 deficiency, familial, 608957 (3), Autosomal recessive
ENSG00000153574	?Ribose 5-phosphate isomerase deficiency, 608611 (3), Autosomal recessive
ENSG00000153827	Mental retardation, autosomal dominant 49, 617752 (3), Autosomal dominant
ENSG00000153902	Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3), Autosomal recessive
ENSG00000153922	Pilarowski-Bjornsson syndrome, 617682 (3), Autosomal dominant
ENSG00000153933	{Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3), Autosomal recessive; Nephrotic syndrome, type 7, 615008 (3), Autosomal recessive
ENSG00000153989	?Congenital disorder of glycosylation, type 1aa, 617082 (3), Autosomal recessive; Mental retardation, autosomal dominant 55, with seizures, 617831 (3), Autosomal dominant
ENSG00000154099	Ciliary dyskinesia, primary, 13, 613193 (3), Autosomal recessive
ENSG00000154118	Huntington disease-like 2, 606438 (3), Autosomal dominant
ENSG00000154122	Chondrocalcinosis 2, 118600 (3), Autosomal dominant; Craniometaphyseal dysplasia, 123000 (3), Autosomal dominant
ENSG00000154124	Autoinflammation, panniculitis, and dermatosis syndrome, 617099 (3), Autosomal recessive
ENSG00000154134	Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3), Autosomal recessive
ENSG00000154153	Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3), Autosomal recessive
ENSG00000154227	Ichthyosis, congenital, autosomal recessive 9, 615023 (3), Autosomal recessive
ENSG00000154229	Pituitary tumor, invasive (3)
ENSG00000154277	{?Parkinson disease 5, susceptibility to}, 613643 (3); Spastic paraplegia 79, autosomal recessive, 615491 (3), Autosomal recessive
ENSG00000154310	Mental retardation, autosomal recessive 54, 617028 (3), Autosomal recessive
ENSG00000154415	Insulin resistance, severe, digenic, 125853 (3), Autosomal dominant
ENSG00000154485	Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive
ENSG00000154646	Enterokinase deficiency, 226200 (3), Autosomal recessive
ENSG00000154678	?Deafness, autosomal dominant 74, 618140 (3)
ENSG00000154743	Pontocerebellar hypoplasia type 2B, 612389 (3), Autosomal recessive
ENSG00000154764	Fuhrmann syndrome, 228930 (3), Autosomal recessive; Ulna and fibula, absence of, with severe limb deficiency, 276820 (3), Autosomal recessive
ENSG00000154767	Xeroderma pigmentosum, group C, 278720 (3), Autosomal recessive
ENSG00000154781	Hypotonia, infantile, with psychomotor retardation, 616816 (3), Autosomal recessive
ENSG00000154803	Birt-Hogg-Dube syndrome, 135150 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Pneumothorax, primary spontaneous, 173600 (3), Autosomal dominant; Renal carcinoma, chromophobe, somatic, 144700 (3)
ENSG00000154856	Hypotrichosis 1, 605389 (3), Autosomal dominant
ENSG00000154864	Arthrogryposis, distal, type 3, 114300 (3), Autosomal dominant; Arthrogryposis, distal, type 5, 108145 (3), Autosomal dominant; Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive; ?Marden-Walker syndrome, 248700 (3), Autosomal dominant
ENSG00000155016	Spastic paraplegia 56, autosomal recessive, 615030 (3), Autosomal recessive
ENSG00000155100	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive
ENSG00000155256	Spastic paraplegia 33, autosomal dominant, 610244 (3), Autosomal dominant
ENSG00000155380	Erythrocyte lactate transporter defect, 245340 (3), Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3), Autosomal dominant; Monocarboxylate transporter 1 deficiency, 616095 (3), Autosomal recessive, Autosomal dominant
ENSG00000155465	Lysinuric protein intolerance, 222700 (3), Autosomal recessive
ENSG00000155561	?Nephrotic syndrome, type 13, 616893 (3)
ENSG00000155657	Cardiomyopathy, dilated, 1G, 604145 (3); Cardiomyopathy, familial hypertrophic, 9, 613765 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3), Autosomal recessive; Myopathy, proximal, with early respiratory muscle involvement, 603689 (3); Salih myopathy, 611705 (3), Autosomal recessive; Tibial muscular dystrophy, tardive, 600334 (3), Autosomal dominant
ENSG00000155719	Deafness, autosomal recessive 22, 607039 (3), Autosomal recessive
ENSG00000155755	Joubert syndrome 14, 614424 (3), Autosomal recessive
ENSG00000155816	Mental retardation, autosomal recessive 47, 616193 (3), Autosomal recessive
ENSG00000155846	{Obesity, variation in}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial
ENSG00000155850	Achondrogenesis Ib, 600972 (3), Autosomal recessive; Atelosteogenesis, type II, 256050 (3), Autosomal recessive; De la Chapelle dysplasia, 256050 (3), Autosomal recessive; Diastrophic dysplasia, 222600 (3), Autosomal recessive; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 4, 226900 (3), Autosomal recessive
ENSG00000155906	Combined oxidative phosphorylation deficiency 11, 614922 (3), Autosomal recessive
ENSG00000155961	Mental retardation, X-linked 72, 300271 (3), X-linked recessive; ?Waisman syndrome, 311510 (3), X-linked recessive
ENSG00000155962	?Mental retardation, X-linked, syndromic 32, 300886 (3), X-linked recessive
ENSG00000155966	Mental retardation, X-linked, FRAXE type, 309548 (3), X-linked recessive
ENSG00000155974	Fraser syndrome 3, 617667 (3), Autosomal recessive
ENSG00000155975	Spastic paraplegia 53, autosomal recessive, 614898 (3), Autosomal recessive
ENSG00000155980	{Amyotrophic lateral sclerosis, susceptibility to, 25}, 617921 (3), Autosomal dominant; Myoclonus, intractable, neonatal, 617235 (3), Autosomal dominant; Spastic paraplegia 10, autosomal dominant, 604187 (3), Autosomal dominant
ENSG00000156006	[Acetylation, slow], 243400 (3), Autosomal recessive
ENSG00000156052	Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3); Sturge-Weber syndrome, somatic, mosaic, 185300 (3)
ENSG00000156110	Hypermethioninemia due to adenosine kinase deficiency, 614300 (3), Autosomal recessive
ENSG00000156113	?Cerebellar atrophy, developmental delay, and seizures, 617643 (3), Autosomal recessive; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3), Autosomal dominant
ENSG00000156140	?Hennekam lymphangiectasia-lymphedema syndrome 3, 618154 (3)
ENSG00000156150	Frontonasal dysplasia 1, 136760 (3), Autosomal recessive
ENSG00000156170	Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial
ENSG00000156171	Cone-rod dystrophy 21, 616502 (3), Autosomal recessive
ENSG00000156172	Bardet-Biedl syndrome 21, 617406 (3), Autosomal recessive; Cone-rod dystrophy 16, 614500 (3), Autosomal recessive; Retinitis pigmentosa 64, 614500 (3), Autosomal recessive
ENSG00000156298	Mental retardation, X-linked 58, 300210 (3), X-linked recessive
ENSG00000156313	Cone-rod dystrophy, X-linked, 1, 304020 (3), X-linked; Macular degeneration, X-linked atrophic, 300834 (3), X-linked recessive; Retinitis pigmentosa 3, 300029 (3); Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3)
ENSG00000156413	Fucosyltransferase 6 deficiency, 613852 (3)
ENSG00000156414	?Spermatogenic failure 30, 618110 (3), Autosomal recessive
ENSG00000156466	Klippel-Feil syndrome 1, autosomal dominant, 118100 (3), Autosomal dominant; Leber congenital amaurosis 17, 615360 (3), Autosomal recessive; Microphthalmia with coloboma 6, digenic, 613703 (3), Autosomal dominant; Microphthalmia, isolated 4, 613094 (3); Multiple synostoses syndrome 4, 617898 (3), Autosomal dominant
ENSG00000156467	Mitochondrial complex III deficiency, nuclear type 3, 615158 (3), Autosomal recessive
ENSG00000156471	Lenz-Majewski hyperostotic dwarfism, 151050 (3), Autosomal dominant
ENSG00000156475	Spinocerebellar ataxia 12, 604326 (3), Autosomal dominant
ENSG00000156515	Hemolytic anemia due to hexokinase deficiency, 235700 (3), Autosomal recessive; Neuropathy, hereditary motor and sensory, Russe type, 605285 (3), Autosomal recessive; Retinitis pigmentosa 79, 617460 (3), Autosomal dominant
ENSG00000156531	Borjeson-Forssman-Lehmann syndrome, 301900 (3), X-linked recessive
ENSG00000156574	Heterotaxy, visceral, 5, 270100 (3), Autosomal dominant
ENSG00000156650	Genitopatellar syndrome, 606170 (3), Autosomal dominant; SBBYSS syndrome, 603736 (3), Autosomal dominant
ENSG00000156709	Combined oxidative phosphorylation deficiency 6, 300816 (3), X-linked recessive; Cowchock syndrome, 310490 (3), X-linked recessive; Deafness, X-linked 5, 300614 (3), X-linked recessive
ENSG00000156738	Immunodeficiency, common variable, 5, 613495 (3), Autosomal recessive
ENSG00000156831	Seckel syndrome 10, 617253 (3), Autosomal recessive
ENSG00000156873	Cirrhosis due to liver phosphorylase kinase deficiency (3); Glycogen storage disease IXc, 613027 (3), Autosomal recessive
ENSG00000156876	?Microcephaly 14, primary, autosomal recessive, 616402 (3), Autosomal recessive
ENSG00000156925	Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3), X-linked recessive; Heterotaxy, visceral, 1, X-linked, 306955 (3), X-linked recessive; VACTERL association, X-linked, 314390 (3), X-linked recessive
ENSG00000156970	Colorectal cancer, somatic, 114500 (3); Mosaic variegated aneuploidy syndrome 1, 257300 (3), Autosomal recessive; [Premature chromatid separation trait], 176430 (3), Autosomal dominant
ENSG00000156973	?Joubert syndrome 22, 615665 (3), Autosomal recessive
ENSG00000156983	Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 (3), Autosomal dominant
ENSG00000157017	{Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial
ENSG00000157087	{Deafness, autosomal recessive 12, modifier of}, 601386 (3), Autosomal recessive
ENSG00000157103	Myoclonic-atonic epilepsy, 616421 (3), Autosomal dominant
ENSG00000157119	Nemaline myopathy 8, autosomal recessive, 615348 (3)
ENSG00000157131	C8 deficiency, type I, 613790 (3), Autosomal recessive
ENSG00000157152	{Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant
ENSG00000157184	CPT II deficiency, infantile, 600649 (3), Autosomal recessive; CPT II deficiency, lethal neonatal, 608836 (3), Autosomal recessive; CPT II deficiency, myopathic, stress-induced, 255110 (3), Autosomal recessive, Autosomal dominant; {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3), Autosomal recessive, Autosomal dominant
ENSG00000157193	{Myocardial infarction, susceptibility to}, 608446 (3)
ENSG00000157227	?Winchester syndrome, 277950 (3)
ENSG00000157259	?Cardiomyopathy, dilated, 2B, 614672 (3), Autosomal recessive
ENSG00000157388	Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3), Autosomal dominant; Sinoatrial node dysfunction and deafness, 614896 (3), Autosomal recessive
ENSG00000157399	Chondrodysplasia punctata, X-linked recessive, 302950 (3), X-linked recessive
ENSG00000157404	Gastrointestinal stromal tumor, familial, 606764 (3), Autosomal dominant, Isolated cases; Germ cell tumors, somatic, 273300 (3); Leukemia, acute myeloid, 601626 (3), Autosomal dominant; Mastocytosis, cutaneous, 154800 (3), Autosomal dominant; Mastocytosis, systemic, somatic, 154800 (3); Piebaldism, 172800 (3), Autosomal dominant
ENSG00000157423	Ciliary dyskinesia, primary, 5, 608647 (3), Autosomal recessive
ENSG00000157483	Glomerulosclerosis, focal segmental, 6, 614131 (3), Autosomal recessive
ENSG00000157500	{Maturity-onset diabetes of the young, type 14}, 616511 (3), Autosomal dominant
ENSG00000157540	Mental retardation, autosomal dominant 7, 614104 (3), Autosomal dominant
ENSG00000157542	Keppen-Lubinsky syndrome, 614098 (3), Autosomal dominant
ENSG00000157613	Osteogenesis imperfecta, type XVI, 616229 (3), Autosomal recessive
ENSG00000157764	Adenocarcinoma of lung, somatic, 211980 (3); Cardiofaciocutaneous syndrome, 115150 (3), Autosomal dominant; Colorectal cancer, somatic (3); LEOPARD syndrome 3, 613707 (3), Autosomal dominant; Melanoma, malignant, somatic (3); Nonsmall cell lung cancer, somatic (3); Noonan syndrome 7, 613706 (3), Autosomal dominant
ENSG00000157765	Pulmonary alveolar microlithiasis, 265100 (3), Autosomal recessive
ENSG00000157766	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3), Autosomal dominant; ?Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3), Autosomal recessive; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3), Autosomal dominant
ENSG00000157796	?Cranioectodermal dysplasia 4, 614378 (3), Autosomal recessive; Nephronophthisis 13, 614377 (3), Autosomal recessive; Senior-Loken syndrome 8, 616307 (3), Autosomal recessive; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3), Autosomal recessive
ENSG00000157856	Ciliary dyskinesia, primary, 21, 615294 (3), Autosomal recessive
ENSG00000157869	Cone-rod dystrophy 18, 615374 (3), Autosomal recessive
ENSG00000157911	Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3), Autosomal recessive; Peroxisome biogenesis disorder 6B, 614871 (3), Autosomal recessive
ENSG00000157933	Shprintzen-Goldberg syndrome, 182212 (3), Autosomal dominant
ENSG00000157978	Hypercholesterolemia, familial, autosomal recessive, 603813 (3), Autosomal recessive
ENSG00000158014	Zinc deficiency, transient neonatal, 608118 (3), Autosomal dominant
ENSG00000158023	Spermatogenic failure 33, 618152 (3)
ENSG00000158055	Van der Woude syndrome 2, 606713 (3), Autosomal dominant
ENSG00000158104	Hawkinsinuria, 140350 (3), Autosomal dominant; Tyrosinemia, type III, 276710 (3), Autosomal recessive
ENSG00000158125	Xanthinuria, type I, 278300 (3), Autosomal recessive
ENSG00000158158	Jalili syndrome, 217080 (3), Autosomal recessive
ENSG00000158163	Polycystic kidney disease 5, 617610 (3), Autosomal recessive
ENSG00000158169	Fanconi anemia, complementation group C, 227645 (3), Autosomal recessive
ENSG00000158290	Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3), X-linked recessive
ENSG00000158321	Mental retardation, autosomal dominant 26, 615834 (3), Autosomal dominant
ENSG00000158352	Stocco dos Santos X-linked mental retardation syndrome, 300434 (3), X-linked
ENSG00000158445	Epileptic encephalopathy, early infantile, 26, 616056 (3), Autosomal dominant
ENSG00000158517	Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3), Autosomal recessive
ENSG00000158526	?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 (3), X-linked recessive
ENSG00000158578	Anemia, sideroblastic, 1, 300751 (3), X-linked recessive; Protoporphyria, erythropoietic, X-linked, 300752 (3), X-linked
ENSG00000158615	Microcephaly, short stature, and impaired glucose metabolism 2, 616817 (3), Autosomal recessive
ENSG00000158683	Heterotaxy, visceral, 8, autosomal, 617205 (3), Autosomal recessive
ENSG00000158773	{Hyperlipidemia, familial combined, susceptibility to}, 602491 (3)
ENSG00000158813	Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3), X-linked recessive; Tooth agenesis, selective, X-linked 1, 313500 (3), X-linked dominant
ENSG00000158815	Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 (3), Autosomal dominant
ENSG00000158828	Parkinson disease 6, early onset, 605909 (3), Autosomal recessive
ENSG00000158864	Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000158874	Apolipoprotein A-II deficiency (3); {Hypercholesterolemia, familial, modifier of}, 143890 (3), Autosomal dominant
ENSG00000158887	Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 1B, 118200 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2I, 607677 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2J, 607736 (3), Autosomal dominant; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; Neuropathy, congenital hypomyelinating, 605253 (3), Autosomal recessive, Autosomal dominant; Roussy-Levy syndrome, 180800 (3), Autosomal dominant
ENSG00000159023	Elliptocytosis-1, 611804 (3), Autosomal recessive, Autosomal dominant
ENSG00000159063	Congenital disorder of glycosylation, type Ih, 608104 (3), Autosomal recessive; Polycystic liver disease 3 with or without kidney cysts, 617874 (3), Autosomal dominant
ENSG00000159079	Ciliary dyskinesia, primary, 26, 615500 (3), Autosomal recessive
ENSG00000159082	Epileptic encephalopathy, early infantile, 53, 617389 (3), Autosomal recessive; Parkinson disease 20, early-onset, 615530 (3), Autosomal recessive
ENSG00000159110	{Hepatitis B virus, susceptibility to}, 610424 (3); ?Immunodeficiency 45, 616669 (3), Autosomal recessive
ENSG00000159128	Immunodeficiency 28, mycobacteriosis, 614889 (3), Autosomal recessive
ENSG00000159140	ZTTK syndrome, 617140 (3), Autosomal dominant
ENSG00000159147	Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive; Microcephaly-micromelia syndrome, 251230 (3), Autosomal recessive
ENSG00000159189	C1q deficiency, 613652 (3), Autosomal recessive
ENSG00000159197	Atrial fibrillation, familial, 4, 611493 (3); Long QT syndrome 6, 613693 (3), Autosomal dominant
ENSG00000159216	Leukemia, acute myeloid, 601626 (3), Autosomal dominant; Platelet disorder, familial, with associated myeloid malignancy, 601399 (3), Autosomal dominant
ENSG00000159251	Atrial septal defect 5, 612794 (3), Autosomal dominant; Cardiomyopathy, dilated, 1R, 613424 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 11, 612098 (3), Autosomal dominant; Left ventricular noncompaction 4, 613424 (3), Autosomal dominant
ENSG00000159261	Deafness, autosomal recessive 29, 614035 (3), Autosomal recessive
ENSG00000159267	Holocarboxylase synthetase deficiency, 253270 (3), Autosomal recessive
ENSG00000159339	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
ENSG00000159363	Kufor-Rakeb syndrome, 606693 (3), Autosomal recessive; Spastic paraplegia 78, autosomal recessive, 617225 (3), Autosomal recessive
ENSG00000159377	?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, 617591 (3), Autosomal recessive
ENSG00000159403	Ehlers-Danlos syndrome, periodontal type, 1, 130080 (3), Autosomal dominant
ENSG00000159423	Hyperprolinemia, type II, 239510 (3), Autosomal recessive
ENSG00000159450	?Uncombable hair syndrome 3, 617252 (3), Autosomal recessive
ENSG00000159459	Johanson-Blizzard syndrome, 243800 (3), Autosomal recessive
ENSG00000159579	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616723 (3), Autosomal recessive
ENSG00000159640	[Angiotensin I-converting enzyme, benign serum increase] (3); {Microvascular complications of diabetes 3}, 612624 (3); {Myocardial infarction, susceptibility to} (3); Renal tubular dysgenesis, 267430 (3), Autosomal recessive; {SARS, progression of} (3); {Stroke, hemorrhagic}, 614519 (3)
ENSG00000159650	?Urocanase deficiency, 276880 (3), Autosomal recessive
ENSG00000159692	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 (3), Autosomal dominant
ENSG00000159723	{Leanness, inherited} (3); {Obesity, late-onset}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial
ENSG00000159753	Immunodeficiency 58, 618131 (3), Autosomal recessive
ENSG00000159899	Acromesomelic dysplasia, Maroteaux type, 602875 (3), Autosomal recessive; Epiphyseal chondrodysplasia, Miura type, 615923 (3), Autosomal dominant; Short stature with nonspecific skeletal abnormalities, 616255 (3), Autosomal dominant
ENSG00000159921	Nonaka myopathy, 605820 (3), Autosomal recessive; Sialuria, 269921 (3), Autosomal dominant
ENSG00000159958	Immunodeficiency, common variable, 4, 613494 (3), Autosomal recessive
ENSG00000160050	{Bardet-Biedl syndrome 1, modifier of}, 209900 (3), Autosomal recessive, Digenic recessive
ENSG00000160111	Anterior segment dysgenesis 8, 617319 (3), Autosomal recessive
ENSG00000160131	Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive
ENSG00000160145	{Coronary heart disease, susceptibility to, 5}, 608901 (3)
ENSG00000160183	Deafness, autosomal recessive 8/10, 601072 (3), Autosomal recessive
ENSG00000160188	Ciliary dyskinesia, primary, 24, 615481 (3), Autosomal recessive
ENSG00000160200	Homocystinuria, B6-responsive and nonresponsive types, 236200 (3), Autosomal recessive; Thrombosis, hyperhomocysteinemic, 236200 (3), Autosomal recessive
ENSG00000160202	Cataract 9, multiple types, 604219 (3), Autosomal recessive, Autosomal dominant
ENSG00000160211	Hemolytic anemia, G6PD deficient (favism), 300908 (3), X-linked dominant; {Resistance to malaria due to G6PD deficiency}, 611162 (3)
ENSG00000160213	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3), Autosomal recessive
ENSG00000160224	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3), Autosomal recessive, Autosomal dominant
ENSG00000160226	Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive; Spondylometaphyseal dysplasia, axial, 602271 (3), Autosomal recessive
ENSG00000160255	Leukocyte adhesion deficiency, 116920 (3), Autosomal recessive
ENSG00000160282	Glutamate formiminotransferase deficiency, 229100 (3), Autosomal recessive
ENSG00000160285	Cataract 44, 616509 (3), Autosomal recessive
ENSG00000160294	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3), Autosomal recessive
ENSG00000160299	Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3), Autosomal recessive
ENSG00000160323	Thrombotic thrombocytopenic purpura, familial, 274150 (3), Autosomal recessive
ENSG00000160460	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3), Autosomal recessive
ENSG00000160602	?Nephronophthisis 9, 613824 (3); Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive
ENSG00000160654	Immunodeficiency 17, CD3 gamma deficient, 615607 (3), Autosomal recessive
ENSG00000160688	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3), Autosomal recessive
ENSG00000160695	Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive
ENSG00000160710	Aicardi-Goutieres syndrome 6, 615010 (3), Autosomal recessive; Dyschromatosis symmetrica hereditaria, 127400 (3), Autosomal dominant
ENSG00000160712	[Interleukin 6, serum level of, QTL], 614752 (3); [Interleukin-6 receptor, soluble, serum level of, QTL], 614689 (3)
ENSG00000160716	Epilepsy, nocturnal frontal lobe, 3, 605375 (3)
ENSG00000160746	Spinocerebellar ataxia, autosomal recessive 10, 613728 (3), Autosomal recessive
ENSG00000160752	Porokeratosis 9, multiple types, 616631 (3), Autosomal dominant
ENSG00000160789	Cardiomyopathy, dilated, 1A, 115200 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2B1, 605588 (3), Autosomal recessive; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3), Autosomal dominant; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3), Autosomal recessive; Heart-hand syndrome, Slovenian type, 610140 (3), Autosomal dominant; Hutchinson-Gilford progeria, 176670 (3), Autosomal recessive, Autosomal dominant; Lipodystrophy, familial partial, type 2, 151660 (3), Autosomal dominant; Malouf syndrome, 212112 (3), Autosomal dominant; Mandibuloacral dysplasia, 248370 (3), Autosomal recessive; Muscular dystrophy, congenital, 613205 (3), Autosomal dominant; Restrictive dermopathy, lethal, 275210 (3), Autosomal recessive
ENSG00000160791	{Diabetes mellitus, insulin-dependent, 22}, 612522 (3); {HIV infection, susceptibility/resistance to} (3); {Hepatitis C virus, resistance to}, 609532 (3); {West nile virus, susceptibility to}, 610379 (3)
ENSG00000160796	Gray platelet syndrome, 139090 (3), Autosomal recessive
ENSG00000160801	Chondrodysplasia, Blomstrand type, 215045 (3), Autosomal recessive; Eiken syndrome, 600002 (3), Autosomal recessive; Failure of tooth eruption, primary, 125350 (3), Autosomal dominant; Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3), Autosomal dominant
ENSG00000160808	Cardiomyopathy, hypertrophic, 8, 608751 (3), Autosomal recessive, Autosomal dominant
ENSG00000160867	{Cancer progression/metastasis} (3)
ENSG00000160877	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 (3), Autosomal dominant
ENSG00000160882	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3), Autosomal recessive; Aldosteronism, glucocorticoid-remediable, 103900 (3), Autosomal dominant
ENSG00000160957	Baller-Gerold syndrome, 218600 (3), Autosomal recessive; RAPADILINO syndrome, 266280 (3), Autosomal recessive; Rothmund-Thomson syndrome, 268400 (3), Autosomal recessive
ENSG00000161011	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3), Autosomal dominant; Myopathy, distal, with rimmed vacuoles, 617158 (3), Autosomal dominant; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive; Paget disease of bone 3, 167250 (3), Autosomal dominant
ENSG00000161202	Robinow syndrome, autosomal dominant 3, 616894 (3), Autosomal dominant
ENSG00000161217	Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3), Autosomal recessive
ENSG00000161270	Nephrotic syndrome, type 1, 256300 (3), Autosomal recessive
ENSG00000161395	Hyperphosphatasia with mental retardation syndrome 4, 615716 (3), Autosomal recessive
ENSG00000161513	Auditory neuropathy and optic atrophy, 617717 (3), Autosomal recessive
ENSG00000161533	Peroxisomal acyl-CoA oxidase deficiency, 264470 (3), Autosomal recessive
ENSG00000161594	Spermatogenic failure 11, 615081 (3), Autosomal dominant
ENSG00000161610	?Narcolepsy 1, 161400 (3), Autosomal dominant
ENSG00000161653	N-acetylglutamate synthase deficiency, 237310 (3), Autosomal recessive
ENSG00000161798	Palmoplantar keratoderma, Bothnian type, 600231 (3), Autosomal dominant
ENSG00000161904	Cataract 46, juvenile-onset, 212500 (3), Autosomal recessive
ENSG00000161970	?Diamond-Blackfan anemia 11, 614900 (3), Autosomal dominant
ENSG00000162004	?Centronuclear myopathy 4, 614807 (3), Autosomal dominant
ENSG00000162009	Somatostatin analog, resistance to (3)
ENSG00000162039	?Spermatogenic failure 22, 617706 (3), Autosomal recessive
ENSG00000162065	DOORS syndrome, 220500 (3), Autosomal recessive; Deafness , autosomal recessive 86, 614617 (3), Autosomal recessive; Deafness, autosomal dominant 65, 616044 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 16, 615338 (3), Autosomal recessive; Myoclonic epilepsy, infantile, familial, 605021 (3), Autosomal recessive
ENSG00000162105	{Autism susceptibility 17}, 613436 (3)
ENSG00000162129	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3), Autosomal recessive
ENSG00000162337	[Bone mineral density variability 1], 601884 (3), Autosomal dominant; Exudative vitreoretinopathy 4, 601813 (3), Autosomal recessive, Autosomal dominant; Hyperostosis, endosteal, 144750 (3), Autosomal dominant; Osteopetrosis, autosomal dominant 1, 607634 (3), Autosomal dominant; Osteoporosis-pseudoglioma syndrome, 259770 (3), Autosomal recessive; {Osteoporosis}, 166710 (3), Autosomal dominant; Osteosclerosis, 144750 (3), Autosomal dominant; Polycystic liver disease 4 with or without kidney cysts, 617875 (3), Autosomal dominant; van Buchem disease, type 2, 607636 (3), Autosomal dominant
ENSG00000162341	[Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
ENSG00000162367	Leukemia, T-cell acute lymphocytic, somatic, 613065 (3)
ENSG00000162377	?Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial
ENSG00000162399	Bartter syndrome, type 4a, 602522 (3), Autosomal recessive; Sensorineural deafness with mild renal dysfunction, 602522 (3), Autosomal recessive
ENSG00000162426	Intellectual developmental disorder with neuropsychiatric features, 617532 (3), Autosomal recessive
ENSG00000162430	Muscular dystrophy, rigid spine, 1, 602771 (3), Autosomal recessive; Myopathy, congenital, with fiber-type disproportion, 255310 (3), Autosomal recessive, Autosomal dominant
ENSG00000162438	{Pancreatitis, chronic, susceptibility to}, 167800 (3), Autosomal dominant
ENSG00000162512	{Obesity, association with}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial
ENSG00000162551	Hypophosphatasia, adult, 146300 (3), Autosomal recessive, Autosomal dominant; Hypophosphatasia, childhood, 241510 (3), Autosomal recessive; Hypophosphatasia, infantile, 241500 (3), Autosomal recessive; Odontohypophosphatasia, 146300 (3), Autosomal recessive, Autosomal dominant
ENSG00000162552	Mullerian aplasia and hyperandrogenism, 158330 (3), Autosomal dominant; ?SERKAL syndrome, 611812 (3), Autosomal recessive
ENSG00000162594	{Inflammatory bowel disease 17, protection against}, 612261 (3); {Psoriasis, protection against}, 605606 (3)
ENSG00000162599	Brain malformations with or without urinary tract defects, 613735 (3), Isolated cases
ENSG00000162601	Bone marrow failure syndrome 4, 618116 (3), Autosomal recessive
ENSG00000162614	Cardiomyopathy, dilated, 1CC, 613122 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 20, 613876 (3), Autosomal dominant
ENSG00000162669	Premature ovarian failure 9, 615724 (3), Autosomal recessive
ENSG00000162676	?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3), Autosomal dominant; ?Neutropenia, severe congenital 2, autosomal dominant, 613107 (3), Autosomal dominant
ENSG00000162687	?Epileptic encephalopathy, early infantile, 57, 617771 (3), Autosomal dominant
ENSG00000162688	Glycogen storage disease IIIa, 232400 (3), Autosomal recessive; Glycogen storage disease IIIb, 232400 (3), Autosomal recessive
ENSG00000162711	CINCA syndrome, 607115 (3), Autosomal dominant; Deafness, autosomal dominant 34, with or without inflammation, 617772 (3), Autosomal dominant; Familial cold inflammatory syndrome 1, 120100 (3), Autosomal dominant; Keratoendothelitis fugax hereditaria, 148200 (3), Autosomal dominant; Muckle-Wells syndrome, 191900 (3), Autosomal dominant
ENSG00000162733	Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3), Autosomal recessive
ENSG00000162735	Peroxisome biogenesis disorder 12A (Zellweger), 614886 (3), Autosomal recessive
ENSG00000162736	Acne inversa, familial, 1, 142690 (3), Autosomal dominant
ENSG00000162738	Neural tube defects, 182940 (3), Autosomal dominant
ENSG00000162747	Neutropenia, alloimmune neonatal (3)
ENSG00000162769	Ataxia, posterior column, with retinitis pigmentosa, 609033 (3), Autosomal recessive
ENSG00000162882	Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3), Autosomal recessive
ENSG00000162885	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3), Autosomal recessive
ENSG00000162923	Skraban-Deardorff syndrome, 617616 (3), Autosomal dominant
ENSG00000162928	Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3), Autosomal recessive; Peroxisome biogenesis disorder 11B, 614885 (3), Autosomal recessive
ENSG00000162946	{Schizophrenia 9, susceptibility to}, 604906 (3)
ENSG00000162992	{Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; Maturity-onset diabetes of the young 6, 606394 (3)
ENSG00000162998	{Osteoarthritis susceptibility 1}, 165720 (3), Multifactorial
ENSG00000163017	Visceral myopathy, 155310 (3), Autosomal dominant
ENSG00000163050	Coenzyme Q10 deficiency, primary, 4, 612016 (3), Autosomal recessive
ENSG00000163069	Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286 (3), Autosomal recessive
ENSG00000163093	Bardet-Biedl syndrome 5, 615983 (3), Autosomal recessive
ENSG00000163104	Adermatoglyphia, 136000 (3), Autosomal dominant; Basan syndrome, 129200 (3), Autosomal dominant
ENSG00000163132	Ectodermal dysplasia 3, Witkop type, 189500 (3), Autosomal dominant; Orofacial cleft 5, 608874 (3); Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3), Autosomal dominant
ENSG00000163161	Trichothiodystrophy 2, photosensitive, 616390 (3), Autosomal recessive; Xeroderma pigmentosum, group B, 610651 (3), Autosomal recessive
ENSG00000163170	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 (3), Autosomal recessive
ENSG00000163254	Cataract 2, multiple types, 604307 (3), Autosomal dominant
ENSG00000163288	Epileptic encephalopathy, early infantile, 45, 617153 (3), Autosomal dominant
ENSG00000163297	Hyaline fibromatosis syndrome, 228600 (3), Autosomal recessive
ENSG00000163344	Porokeratosis 1, multiple types, 175800 (3), Autosomal dominant
ENSG00000163347	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3), Autosomal recessive
ENSG00000163359	Bethlem myopathy 1, 158810 (3), Autosomal recessive, Autosomal dominant; Dystonia 27, 616411 (3), Autosomal recessive; Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal recessive, Autosomal dominant
ENSG00000163362	{Inflammatory bowel disease 29}, 618077 (3)
ENSG00000163374	Grange syndrome, 602531 (3), Autosomal recessive
ENSG00000163378	Adams-Oliver syndrome 4, 615297 (3), Autosomal recessive
ENSG00000163380	Nemaline myopathy 10, 616165 (3), Autosomal recessive
ENSG00000163382	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive
ENSG00000163389	Dowling-Degos disease 4, 615696 (3), Autosomal dominant; ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 (3), Autosomal recessive
ENSG00000163399	Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 (3), Autosomal dominant
ENSG00000163421	Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 (3), Autosomal dominant
ENSG00000163453	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3), Autosomal recessive
ENSG00000163464	{AIDS, slow progression to}, 609423 (3)
ENSG00000163499	?Cataract 42, 115900 (3), Autosomal dominant
ENSG00000163501	Acrocapitofemoral dysplasia, 607778 (3), Autosomal recessive; Brachydactyly, type A1, 112500 (3), Autosomal dominant
ENSG00000163513	Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3); Esophageal cancer, somatic, 133239 (3); Loeys-Dietz syndrome 2, 610168 (3), Autosomal dominant
ENSG00000163527	?Congenital disorder of glycosylation, type Ix, 615597 (3), Autosomal recessive
ENSG00000163536	Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3), Autosomal dominant
ENSG00000163541	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3), Autosomal recessive
ENSG00000163554	Elliptocytosis-2, 130600 (3), Autosomal dominant; Pyropoikilocytosis, 266140 (3), Autosomal recessive; Spherocytosis, type 3, 270970 (3), Autosomal recessive
ENSG00000163581	{Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; Fanconi-Bickel syndrome, 227810 (3), Autosomal recessive
ENSG00000163599	Autoimmune lymphoproliferative syndrome, type V, 616100 (3), Autosomal dominant; {Celiac disease, susceptibility to, 3}, 609755 (3); {Diabetes mellitus, insulin-dependent, 12}, 601388 (3); {Hashimoto thyroiditis}, 140300 (3), Autosomal dominant; {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant
ENSG00000163600	Immunodeficiency, common variable, 1, 607594 (3), Autosomal recessive
ENSG00000163625	?Microcephaly 18, primary, autosomal dominant, 617520 (3), Autosomal dominant
ENSG00000163631	Analbuminemia, 616000 (3); [Dysalbuminemic hyperthyroxinemia], 615999 (3)
ENSG00000163635	Spinocerebellar ataxia 7, 164500 (3), Autosomal dominant
ENSG00000163644	?Maple syrup urine disease, mild variant, 615135 (3)
ENSG00000163646	Retinitis pigmentosa 61, 614180 (3); Usher syndrome, type 3A, 276902 (3), Autosomal recessive
ENSG00000163666	Growth hormone deficiency with pituitary anomalies, 182230 (3), Autosomal recessive, Autosomal dominant; Pituitary hormone deficiency, combined, 5, 182230 (3), Autosomal recessive, Autosomal dominant; Septooptic dysplasia, 182230 (3), Autosomal recessive, Autosomal dominant
ENSG00000163687	Systemic lupus erythematosus 16, 614420 (3), Autosomal recessive
ENSG00000163702	Candidiasis, familial, 9, 616445 (3), Autosomal recessive
ENSG00000163703	Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3), Autosomal dominant; {Atrioventricular septal defect, susceptibility to, 2}, 606217 (3), Autosomal dominant
ENSG00000163719	{Centronuclear myopathy, autosomal, modifier of}, 160150 (3), Autosomal dominant
ENSG00000163754	?Glycogen storage disease XV, 613507 (3), Autosomal recessive; Polyglucosan body myopathy 2, 616199 (3), Autosomal recessive
ENSG00000163755	Hermansky-Pudlak syndrome 3, 614072 (3), Autosomal recessive
ENSG00000163795	?Retinitis pigmentosa 58, 613617 (3), Autosomal recessive
ENSG00000163817	Hyperglycinuria, 138500 (3), Autosomal dominant; Iminoglycinuria, digenic, 242600 (3), Autosomal recessive, Digenic recessive
ENSG00000163818	Bardet-Biedl syndrome 17, 615994 (3), Autosomal recessive
ENSG00000163820	Cataract 18, autosomal recessive, 610019 (3), Autosomal recessive
ENSG00000163848	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3), Autosomal dominant
ENSG00000163877	Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (3), Autosomal recessive
ENSG00000163898	Hypotrichosis 7, 604379 (3), Autosomal recessive; Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3), Autosomal recessive
ENSG00000163913	Cranioectodermal dysplasia 1, 218330 (3), Autosomal recessive
ENSG00000163914	Night blindness, congenital stationary, autosomal dominant 1, 610445 (3); Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3), Autosomal recessive, Autosomal dominant; Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant
ENSG00000163930	Tumor predisposition syndrome, 614327 (3), Autosomal dominant
ENSG00000163931	Short stature, developmental delay, and congenital heart defects, 617044 (3), Autosomal recessive
ENSG00000163932	Autoimmune lymphoproliferative syndrome, type III, 615559 (3), Autosomal recessive
ENSG00000163933	Congenital disorder of glycosylation, type In, 612015 (3), Autosomal recessive
ENSG00000163945	UV-sensitive syndrome 3, 614640 (3), Autosomal recessive
ENSG00000163956	Myopia 23, autosomal recessive, 615431 (3), Autosomal recessive
ENSG00000163961	RIDDLE syndrome, 611943 (3), Autosomal recessive
ENSG00000164007	Hypomagnesemia 5, renal, with ocular involvement, 248190 (3), Autosomal recessive
ENSG00000164010	[Blood group, Radin], 111620 (3); [Blood group, Scianna system], 111750 (3)
ENSG00000164022	Leukodystrophy, hypomyelinating, 3, 260600 (3), Autosomal recessive
ENSG00000164066	?Orofaciodigital syndrome XVII, 617926 (3), Autosomal recessive; ?Short-rib thoracic dysplasia 20 with polydactyly, 617925 (3), Autosomal recessive
ENSG00000164073	Ceroid lipofuscinosis, neuronal, 7, 610951 (3), Autosomal recessive; Macular dystrophy with central cone involvement, 616170 (3), Autosomal recessive
ENSG00000164078	{Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3), Autosomal dominant
ENSG00000164087	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3), Autosomal recessive
ENSG00000164093	Anterior segment dysgenesis 4, 137600 (3), Autosomal dominant; Axenfeld-Rieger syndrome, type 1, 180500 (3), Autosomal dominant; Ring dermoid of cornea, 180550 (3), Autosomal dominant
ENSG00000164099	Mental retardation, autosomal recessive 1, 249500 (3), Autosomal recessive
ENSG00000164111	{Pregnancy loss, recurrent, susceptibility to, 3}, 614391 (3), Autosomal dominant
ENSG00000164116	Moyamoya 6 with achalasia, 615750 (3), Autosomal recessive
ENSG00000164120	Cranioosteoarthropathy, 259100 (3), Autosomal recessive; Digital clubbing, isolated congenital, 119900 (3), Autosomal recessive; Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3), Autosomal recessive
ENSG00000164134	Mental retardation, autosomal dominant 50, 617787 (3), Autosomal dominant
ENSG00000164172	Molybdenum cofactor deficiency B, 252160 (3), Autosomal recessive
ENSG00000164175	Albinism, oculocutaneous, type IV, 606574 (3); [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3), Autosomal recessive; [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3), Autosomal recessive; [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3), Autosomal recessive
ENSG00000164182	Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000164190	Cornelia de Lange syndrome 1, 122470 (3), Autosomal dominant
ENSG00000164199	?Febrile seizures, familial, 4, 604352 (3), Autosomal dominant; Usher syndrome, type 2C, 605472 (3), Autosomal recessive; Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3), Autosomal recessive
ENSG00000164209	Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive
ENSG00000164258	Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000164265	{Asthma, susceptibility to}, 600807 (3), Autosomal dominant
ENSG00000164266	{Fibrocalculous pancreatic diabetes, susceptibility to}, 608189 (3), Autosomal recessive, Autosomal dominant; Pancreatitis, hereditary, 167800 (3), Autosomal dominant; Tropical calcific pancreatitis, 608189 (3), Autosomal recessive, Autosomal dominant
ENSG00000164306	Myopia 22, autosomal dominant, 615420 (3), Autosomal dominant
ENSG00000164326	{?Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial
ENSG00000164342	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3), Autosomal recessive, Autosomal dominant; {HIV1 infection, resistance to}, 609423 (3)
ENSG00000164344	Fletcher factor (prekallikrein) deficiency, 612423 (3), Autosomal recessive
ENSG00000164362	{Dyskeratosis congenita, autosomal dominant 2}, 613989 (3), Autosomal recessive, Autosomal dominant; {Dyskeratosis congenita, autosomal recessive 4}, 613989 (3), Autosomal recessive, Autosomal dominant; {Leukemia, acute myeloid}, 601626 (3), Autosomal dominant; {Melanoma, cutaneous malignant, 9}, 615134 (3); {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3), Autosomal dominant
ENSG00000164398	Myelodysplastic syndrome (3); Myelogenous leukemia, acute (3)
ENSG00000164404	?Premature ovarian failure 14, 618014 (3), Autosomal recessive
ENSG00000164405	Mitochondrial complex III deficiency, nuclear type 4, 615159 (3), Autosomal recessive
ENSG00000164414	Congenital disorder of glycosylation, type IIf, 603585 (3), Autosomal recessive
ENSG00000164418	Mental retardation, autosomal recessive, 6, 611092 (3), Autosomal recessive
ENSG00000164442	Atrial septal defect 8, 614433 (3), Autosomal dominant; Ventricular septal defect 2, 614431 (3), Autosomal dominant
ENSG00000164458	{Neural tube defects, susceptibility to}, 182940 (3), Autosomal dominant; Sacral agenesis with vertebral anomalies, 615709 (3), Autosomal recessive
ENSG00000164494	Coenzyme Q10 deficiency, primary, 3, 614652 (3), Autosomal recessive
ENSG00000164509	?Amyloidosis, primary localized cutaneous, 2, 613955 (3), Autosomal dominant
ENSG00000164532	Atrial septal defect 4, 611363 (3)
ENSG00000164587	Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)
ENSG00000164588	Epileptic encephalopathy, early infantile, 24, 615871 (3), Autosomal dominant
ENSG00000164597	Congenital disorder of glycosylation, type IIi, 613612 (3)
ENSG00000164610	?Retinitis pigmentosa 9, 180104 (3), Autosomal dominant
ENSG00000164619	Diaphanospondylodysostosis, 608022 (3), Autosomal recessive
ENSG00000164690	Holoprosencephaly 3, 142945 (3), Autosomal dominant; Microphthalmia with coloboma 5, 611638 (3), Autosomal dominant; Schizencephaly, 269160 (3); Single median maxillary central incisor, 147250 (3), Autosomal dominant
ENSG00000164692	Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3), Autosomal dominant; Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3), Autosomal recessive; Osteogenesis imperfecta, type II, 166210 (3), Autosomal dominant; Osteogenesis imperfecta, type III, 259420 (3), Autosomal dominant; Osteogenesis imperfecta, type IV, 166220 (3), Autosomal dominant; {Osteoporosis, postmenopausal}, 166710 (3), Autosomal dominant
ENSG00000164708	Glycogen storage disease X, 261670 (3), Autosomal recessive
ENSG00000164736	Vesicoureteral reflux 3, 613674 (3), Autosomal dominant
ENSG00000164741	Colorectal cancer, somatic, 114500 (3)
ENSG00000164742	?Deafness, autosomal recessive 44, 610154 (3), Autosomal recessive
ENSG00000164751	Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3), Autosomal recessive; Peroxisome biogenesis disorder 5B, 614867 (3), Autosomal recessive
ENSG00000164754	Cornelia de Lange syndrome 4, 614701 (3), Autosomal dominant; ?Mungan syndrome, 611376 (3), Autosomal recessive
ENSG00000164756	{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant
ENSG00000164761	Paget disease of bone 5, juvenile-onset, 239000 (3), Autosomal recessive
ENSG00000164818	Ciliary dyskinesia, primary, 18, 614874 (3), Autosomal recessive
ENSG00000164867	{Alzheimer disease, late-onset, susceptibility to}, 104300 (3), Autosomal dominant; {Coronary artery spasm 1, susceptibility to} (3); {Hypertension, pregnancy-induced}, 189800 (3), Autosomal dominant; {Hypertension, susceptibility to}, 145500 (3), Multifactorial; {Ischemic stroke, susceptibility to}, 601367 (3), Multifactorial; {Placental abruption} (3)
ENSG00000164885	?Lissencephaly 7 with cerebellar hypoplasia, 616342 (3), Autosomal recessive
ENSG00000164904	Epilepsy, pyridoxine-dependent, 266100 (3), Autosomal recessive
ENSG00000164930	Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3), Autosomal recessive
ENSG00000164932	Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
ENSG00000164933	?Exercise intolerance, riboflavin-responsive, 616839 (3), Autosomal recessive
ENSG00000164946	Bifid nose with or without anorectal and renal anomalies, 608980 (3); Manitoba oculotrichoanal syndrome, 248450 (3), Autosomal recessive; Trigonocephaly 2, 614485 (3), Autosomal dominant
ENSG00000164951	Pyruvate dehydrogenase phosphatase deficiency, 608782 (3), Autosomal recessive
ENSG00000164953	{Bardet-Biedl syndrome 14, modifier of}, 615991 (3), Autosomal recessive; COACH syndrome, 216360 (3), Autosomal recessive; Joubert syndrome 6, 610688 (3), Autosomal recessive; Meckel syndrome 3, 607361 (3), Autosomal recessive; Nephronophthisis 11, 613550 (3), Autosomal recessive
ENSG00000164961	Ritscher-Schinzel syndrome 1, 220210 (3), Autosomal recessive; Spastic paraplegia 8, autosomal dominant, 603563 (3), Autosomal dominant
ENSG00000165029	{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3), Autosomal dominant; HDL deficiency, type 2, 604091 (3); Tangier disease, 205400 (3), Autosomal recessive
ENSG00000165059	?Bleeding disorder, platelet-type, 19, 616176 (3), Autosomal recessive
ENSG00000165060	Friedreich ataxia, 229300 (3), Autosomal recessive; Friedreich ataxia with retained reflexes, 229300 (3), Autosomal recessive
ENSG00000165078	Epilepsy, familial temporal lobe, 5, 614417 (3), Autosomal recessive, Autosomal dominant; Febrile seizures, familial, 11, 614418 (3), Autosomal recessive
ENSG00000165091	Deafness, autosomal dominant 36, 606705 (3), Autosomal dominant; Deafness, autosomal recessive 7, 600974 (3), Autosomal recessive
ENSG00000165102	Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3), Autosomal recessive; Retinitis pigmentosa 73, 616544 (3), Autosomal recessive
ENSG00000165119	Au-Kline syndrome, 616580 (3), Autosomal dominant
ENSG00000165138	Nephronophthisis 16, 615382 (3), Autosomal recessive
ENSG00000165140	Fructose-1,6-bisphosphatase deficiency, 229700 (3), Autosomal recessive
ENSG00000165168	Chronic granulomatous disease, X-linked, 306400 (3), X-linked recessive; Immunodeficiency 34, mycobacteriosis, X-linked, 300645 (3), X-linked recessive
ENSG00000165186	{Autism, susceptibility to, X-linked 4}, 300830 (3), X-linked recessive
ENSG00000165194	Epileptic encephalopathy, early infantile, 9, 300088 (3), X-linked
ENSG00000165195	Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3), X-linked recessive; Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3)
ENSG00000165240	Menkes disease, 309400 (3), X-linked recessive; Occipital horn syndrome, 304150 (3), X-linked recessive; Spinal muscular atrophy, distal, X-linked 3, 300489 (3), X-linked recessive
ENSG00000165269	[Glycerol quantitative trait locus], 614411 (3), Autosomal recessive
ENSG00000165272	[Blood group GIL], 607457 (3)
ENSG00000165280	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3); Charcot-Marie-Tooth disease, type 2Y, 616687 (3), Autosomal dominant; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3), Autosomal dominant
ENSG00000165282	Hyperphosphatasia with mental retardation syndrome 2, 614749 (3), Autosomal recessive
ENSG00000165288	Mental retardation, X-linked 93, 300659 (3), X-linked recessive
ENSG00000165370	Pituitary adenoma 2, GH-secreting, 300943 (3), X-linked
ENSG00000165392	Werner syndrome, 277700 (3), Autosomal recessive
ENSG00000165409	Hyperthyroidism, familial gestational, 603373 (3); Hyperthyroidism, nonautoimmune, 609152 (3), Autosomal dominant, Isolated cases; Hypothyroidism, congenital, nongoitrous, 1, 275200 (3), Autosomal recessive; Thyroid adenoma, hyperfunctioning, somatic (3); Thyroid carcinoma with thyrotoxicosis (3)
ENSG00000165410	Nemaline myopathy 7, autosomal recessive, 610687 (3), Autosomal recessive
ENSG00000165458	Opsismodysplasia, 258480 (3), Autosomal recessive
ENSG00000165462	Fibrosis of extraocular muscles, congenital, 2, 602078 (3), Autosomal recessive
ENSG00000165471	{Chronic infections, due to MBL deficiency}, 614372 (3), Autosomal dominant
ENSG00000165474	Bart-Pumphrey syndrome, 149200 (3), Autosomal dominant; Deafness, autosomal dominant 3A, 601544 (3), Autosomal dominant; Deafness, autosomal recessive 1A, 220290 (3), Autosomal recessive; Hystrix-like ichthyosis with deafness, 602540 (3), Autosomal dominant; Keratitis-ichthyosis-deafness syndrome, 148210 (3), Autosomal dominant; Keratoderma, palmoplantar, with deafness, 148350 (3), Autosomal dominant; Vohwinkel syndrome, 124500 (3), Autosomal dominant
ENSG00000165478	Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3), Autosomal recessive; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3), Autosomal dominant
ENSG00000165506	Ciliary dyskinesia, primary, 10, 612518 (3)
ENSG00000165533	Bardet-Biedl syndrome 8, 615985 (3), Autosomal recessive; ?Retinitis pigmentosa 51, 613464 (3), Autosomal recessive
ENSG00000165588	Microphthalmia, syndromic 5, 610125 (3), Autosomal dominant; Pituitary hormone deficiency, combined, 6, 613986 (3), Autosomal dominant; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 (3), Autosomal dominant
ENSG00000165617	?Townes-Brocks syndrome 2, 617466 (3), Autosomal dominant
ENSG00000165643	Ovarian dysgenesis 5, 617690 (3), Autosomal recessive; Spermatogenic failure 32, 618115 (3), Autosomal dominant
ENSG00000165646	?Parkinsonism-dystonia, infantile, 2, 618049 (3), Autosomal recessive
ENSG00000165671	Leukemia, acute myeloid, 601626 (1), Autosomal dominant; Sotos syndrome 1, 117550 (3), Autosomal dominant
ENSG00000165688	Spinocerebellar ataxia, autosomal recessive 2, 213200 (3), Autosomal recessive
ENSG00000165694	Nystagmus 1, congenital, X-linked, 310700 (3), X-linked; Nystagmus, infantile periodic alternating, X-linked, 310700 (3), X-linked
ENSG00000165699	Focal cortical dysplasia, type II, somatic, 607341 (3); Lymphangioleiomyomatosis, 606690 (3); Tuberous sclerosis-1, 191100 (3), Autosomal dominant
ENSG00000165702	Bleeding disorder, platelet-type, 17, 187900 (3), Autosomal recessive, Autosomal dominant
ENSG00000165704	HPRT-related gout, 300323 (3), X-linked recessive; Lesch-Nyhan syndrome, 300322 (3), X-linked recessive
ENSG00000165730	Preeclampsia/eclampsia 4, 609404 (3)
ENSG00000165731	Central hypoventilation syndrome, congenital, 209880 (3), Autosomal dominant; {Hirschsprung disease, protection against}, 142623 (3), Autosomal dominant; {Hirschsprung disease, susceptibility to, 1}, 142623 (3), Autosomal dominant; Medullary thyroid carcinoma, 155240 (3), Autosomal dominant; Multiple endocrine neoplasia IIA, 171400 (3), Autosomal dominant; Multiple endocrine neoplasia IIB, 162300 (3), Autosomal dominant; Pheochromocytoma, 171300 (3), Autosomal dominant
ENSG00000165733	?Aplasia cutis congenita, nonsyndromic, 107600 (3), Autosomal dominant
ENSG00000165802	Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3), Autosomal dominant
ENSG00000165821	?Coloboma, ocular, autosomal recessive, 216820 (3), Autosomal recessive
ENSG00000165841	Clopidogrel, impaired responsiveness to, 609535 (3), Autosomal recessive; Mephenytoin poor metabolizer, 609535 (3), Autosomal recessive; Omeprazole poor metabolizer, 609535 (3), Autosomal recessive; Proguanil poor metabolizer, 609535 (3), Autosomal recessive
ENSG00000165898	Multiple mitochondrial dysfunctions syndrome 4, 616370 (3), Autosomal recessive
ENSG00000165899	Deafness, autosomal recessive 84B, 614944 (3), Autosomal recessive
ENSG00000165915	Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3), Autosomal recessive
ENSG00000165917	Fetal akinesia deformation sequence, 208150 (3), Autosomal recessive; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3), Autosomal recessive
ENSG00000165970	Hyperekplexia 3, 614618 (3), Autosomal recessive, Autosomal dominant
ENSG00000165995	Brugada syndrome 4, 611876 (3)
ENSG00000166033	CARASIL syndrome, 600142 (3), Autosomal recessive; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3), Autosomal dominant; {Macular degeneration, age-related, 7}, 610149 (3); {Macular degeneration, age-related, neovascular type}, 610149 (3)
ENSG00000166035	{Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; Hepatic lipase deficiency, 614025 (3), Autosomal recessive; [High density lipoprotein cholesterol level QTL 12], 612797 (3)
ENSG00000166037	Mosaic variegated aneuploidy syndrome 2, 614114 (3), Autosomal recessive
ENSG00000166068	Legius syndrome, 611431 (3), Autosomal dominant
ENSG00000166086	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3), Autosomal recessive
ENSG00000166123	Mental retardation, autosomal recessive 49, 616281 (3), Autosomal recessive
ENSG00000166126	Megaloblastic anemia-1, Norwegian type, 261100 (3), Autosomal recessive
ENSG00000166147	Acromicric dysplasia, 102370 (3), Autosomal dominant; Ectopia lentis, familial, 129600 (3), Autosomal dominant; Geleophysic dysplasia 2, 614185 (3), Autosomal dominant; MASS syndrome, 604308 (3); Marfan lipodystrophy syndrome, 616914 (3), Autosomal dominant; Marfan syndrome, 154700 (3), Autosomal dominant; Stiff skin syndrome, 184900 (3), Autosomal dominant; Weill-Marchesani syndrome 2, dominant, 608328 (3), Autosomal dominant
ENSG00000166189	Hermansky-Pudlak syndrome 6, 614075 (3), Autosomal recessive
ENSG00000166206	{Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3); Epileptic encephalopathy, early infantile, 43, 617113 (3), Autosomal dominant
ENSG00000166224	Nephrotic syndrome, type 14, 617575 (3), Autosomal recessive
ENSG00000166228	Hyperphenylalaninemia, BH4-deficient, D, 264070 (3), Autosomal recessive
ENSG00000166250	Congenital short bowel syndrome, 615237 (3), Autosomal recessive
ENSG00000166257	Atrial fibrillation, familial, 16, 613120 (3), Autosomal dominant; Brugada syndrome 7, 613120 (3), Autosomal dominant
ENSG00000166278	C2 deficiency, 217000 (3), Autosomal recessive; {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)
ENSG00000166311	Niemann-Pick disease, type A, 257200 (3), Autosomal recessive; Niemann-Pick disease, type B, 607616 (3), Autosomal recessive
ENSG00000166326	?Aniridia 3, 617142 (3), Autosomal dominant
ENSG00000166340	Ceroid lipofuscinosis, neuronal, 2, 204500 (3), Autosomal recessive; Spinocerebellar ataxia, autosomal recessive 7, 609270 (3), Autosomal recessive
ENSG00000166341	Mitral valve prolapse 2, 607829 (3), Autosomal dominant; Van Maldergem syndrome 1, 601390 (3), Autosomal recessive
ENSG00000166347	Methemoglobinemia and ambiguous genitalia, 250790 (3), Autosomal recessive
ENSG00000166349	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3); Combined cellular and humoral immune defects with granulomas, 233650 (3), Autosomal recessive; Omenn syndrome, 603554 (3), Autosomal recessive; Severe combined immunodeficiency, B cell-negative, 601457 (3), Autosomal recessive
ENSG00000166396	Palmoplantar keratoderma, Nagashima type, 615598 (3), Autosomal recessive
ENSG00000166401	Peeling skin syndrome 5, 617115 (3), Autosomal recessive
ENSG00000166402	?Retinal dystrophy and obesity, 616188 (3), Autosomal recessive
ENSG00000166415	Amelogenesis imperfecta, type IIA3, 613211 (3), Autosomal recessive
ENSG00000166535	{Otitis media, susceptibility to}, 166760 (3)
ENSG00000166546	Spinocerebellar ataxia 31, 117210 (3), Autosomal dominant
ENSG00000166548	Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3), Autosomal recessive; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3), Autosomal recessive
ENSG00000166558	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3), Autosomal recessive
ENSG00000166603	Obesity, autosomal dominant, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial
ENSG00000166685	Congenital disorder of glycosylation, type IIg, 611209 (3)
ENSG00000166710	?Amyloidosis, familial visceral, 105200 (3), Autosomal dominant; Immunodeficiency 43, 241600 (3), Autosomal recessive
ENSG00000166794	Osteogenesis imperfecta, type IX, 259440 (3), Autosomal recessive
ENSG00000166801	Gracile bone dysplasia, 602361 (3), Autosomal dominant; Kenny-Caffey syndrome, type 2, 127000 (3), Autosomal dominant
ENSG00000166813	Acrocallosal syndrome, 200990 (3), Autosomal recessive; ?Al-Gazali-Bakalinova syndrome, 607131 (3), Autosomal recessive; ?Hydrolethalus syndrome 2, 614120 (3), Autosomal recessive; Joubert syndrome 12, 200990 (3), Autosomal recessive
ENSG00000166819	Lipodystrophy, familial partial, type 4, 613877 (3), Autosomal dominant
ENSG00000166828	Bronchiectasis with or without elevated sweat chloride 3, 613071 (3), Autosomal dominant; Liddle syndrome, 618114 (3); Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive
ENSG00000166855	?Protoporphyria, erythropoietic, 2, 618015 (3), Autosomal dominant
ENSG00000166862	?Mental retardation, autosomal dominant 10, 614256 (3)
ENSG00000166863	Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3), Autosomal recessive
ENSG00000166947	Spherocytosis, type 5, 612690 (3)
ENSG00000166948	Spinocerebellar ataxia 35, 613908 (3), Autosomal dominant
ENSG00000166949	Loeys-Dietz syndrome 3, 613795 (3), Autosomal dominant
ENSG00000166974	Symmetric circumferential skin creases, congenital, 2, 616734 (3), Autosomal dominant
ENSG00000166986	Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3), Autosomal dominant; Interstitial lung and liver disease, 615486 (3), Autosomal recessive
ENSG00000167085	{Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant
ENSG00000167098	Spermatogenic failure 16, 617187 (3), Autosomal recessive
ENSG00000167113	Coenzyme Q10 deficiency, primary, 7, 616276 (3), Autosomal recessive
ENSG00000167114	Ichthyosis prematurity syndrome, 608649 (3)
ENSG00000167131	Ciliary dyskinesia, primary, 17, 614679 (3), Autosomal recessive
ENSG00000167186	?Coenzyme Q10 deficiency, primary, 8, 616733 (3), Autosomal recessive
ENSG00000167207	Blau syndrome, 186580 (3), Autosomal dominant; {Inflammatory bowel disease 1, Crohn disease}, 266600 (3), Multifactorial; {Psoriatic arthritis, susceptibility to}, 607507 (2); {Yao syndrome}, 617321 (3), Multifactorial
ENSG00000167210	Deafness, autosomal recessive 77, 613079 (3), Autosomal recessive
ENSG00000167244	?Growth restriction, severe, with distinctive facies, 616489 (3), Autosomal dominant
ENSG00000167286	Immunodeficiency 19, 615617 (3), Autosomal recessive
ENSG00000167306	Microvillus inclusion disease, 251850 (3), Autosomal recessive
ENSG00000167323	Immunodeficiency 10, 612783 (3), Autosomal recessive; Myopathy, tubular aggregate, 1, 160565 (3), Autosomal dominant; Stormorken syndrome, 185070 (3), Autosomal dominant
ENSG00000167371	Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3), Autosomal dominant; Episodic kinesigenic dyskinesia 1, 128200 (3), Autosomal dominant; Seizures, benign familial infantile, 2, 605751 (3), Autosomal dominant
ENSG00000167397	Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3); Warfarin resistance, 122700 (3), Autosomal dominant
ENSG00000167434	Retinitis pigmentosa 17, 600852 (3), Autosomal dominant
ENSG00000167468	Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3), Autosomal recessive
ENSG00000167508	Porokeratosis 7, multiple types, 614714 (3), Autosomal dominant
ENSG00000167513	Meier-Gorlin syndrome 4, 613804 (3), Autosomal recessive
ENSG00000167522	KBG syndrome, 148050 (3), Autosomal dominant
ENSG00000167548	Kabuki syndrome 1, 147920 (3), Autosomal dominant
ENSG00000167552	Lissencephaly 3, 611603 (3), Autosomal dominant
ENSG00000167580	Diabetes insipidus, nephrogenic, 125800 (3), Autosomal recessive, Autosomal dominant
ENSG00000167588	Hypertriglyceridemia, transient infantile, 614480 (3), Autosomal recessive
ENSG00000167632	Mental retardation, autosomal recessive 13, 613192 (3), Autosomal recessive
ENSG00000167633	{AIDS, delayed/rapid progression to}, 609423 (3)
ENSG00000167634	Hydatidiform mole, recurrent, 1, 231090 (3), Autosomal recessive
ENSG00000167642	Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3), Autosomal recessive
ENSG00000167646	Ciliary dyskinesia, primary, 2, 606763 (3), Autosomal recessive
ENSG00000167654	Ataxia, cerebellar, Cayman type, 601238 (3), Autosomal recessive
ENSG00000167658	?Spinocerebellar ataxia 26, 609306 (3), Autosomal dominant
ENSG00000167711	Alpha-2-plasmin inhibitor deficiency, 262850 (3), Autosomal recessive
ENSG00000167716	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3), Autosomal recessive; Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3), Autosomal recessive
ENSG00000167723	Olmsted syndrome, 614594 (3), Autosomal dominant; ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3), Autosomal dominant
ENSG00000167748	[Kallikrein, decreased urinary activity of], 615953 (3)
ENSG00000167749	Amelogenesis imperfecta, type IIA1, 204700 (3), Autosomal recessive
ENSG00000167768	Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive, Autosomal dominant; Ichthyosis histrix, Curth-Macklin type, 146590 (3), Autosomal dominant; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3), Autosomal dominant; Keratosis palmoplantaris striata III, 607654 (3); Palmoplantar keratoderma, epidermolytic, 144200 (3), Autosomal dominant; Palmoplantar keratoderma, nonepidermolytic, 600962 (3), Autosomal dominant
ENSG00000167772	Plasma triglyceride level QTL, low, 615881 (3), Autosomal dominant
ENSG00000167775	Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3)
ENSG00000167791	Deafness, autosomal recessive 93, 614899 (3), Autosomal recessive
ENSG00000167792	Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000167895	Epidermodysplasia verruciformis, 226400 (3), Autosomal recessive
ENSG00000167941	Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3), Autosomal dominant; Sclerosteosis 1, 269500 (3), Autosomal recessive; Van Buchem disease, 239100 (3), Autosomal recessive
ENSG00000167972	Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3), Autosomal recessive
ENSG00000167985	Paragangliomas 2, 601650 (3), Autosomal dominant
ENSG00000167995	Bestrophinopathy, autosomal recessive, 611809 (3); Macular dystrophy, vitelliform, 2, 153700 (3), Autosomal dominant; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3), Autosomal dominant; Retinitis pigmentosa, concentric, 613194 (3); Retinitis pigmentosa-50, 613194 (3); Vitreoretinochoroidopathy, 193220 (3), Autosomal dominant
ENSG00000167996	?Hemochromatosis, type 5, 615517 (3), Autosomal dominant
ENSG00000168000	Encephalopathy, progressive, with or without lipodystrophy, 615924 (3), Autosomal recessive; Lipodystrophy, congenital generalized, type 2, 269700 (3), Autosomal recessive; Neuropathy, distal hereditary motor, type VA, 600794 (3), Autosomal dominant; Silver spastic paraplegia syndrome, 270685 (3), Autosomal dominant
ENSG00000168014	?Orofaciodigital syndrome XIV, 615948 (3), Autosomal recessive
ENSG00000168028	Asplenia, isolated congenital, 271400 (3), Autosomal dominant
ENSG00000168036	Colorectal cancer, somatic, 114500 (3); Exudative vitreoretinopathy 7, 617572 (3), Autosomal dominant; Hepatocellular carcinoma, somatic, 114550 (3); Medulloblastoma, somatic, 155255 (3); Mental retardation, autosomal dominant 19, 615075 (3), Autosomal dominant; Ovarian cancer, somatic, 167000 (3); Pilomatricoma, somatic, 132600 (3)
ENSG00000168040	Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 (3), Autosomal recessive
ENSG00000168056	Dental anomalies and short stature, 601216 (3), Autosomal recessive; Geleophysic dysplasia 3, 617809 (3), Autosomal dominant
ENSG00000168137	Mental retardation, autosomal dominant 23, 615761 (3), Autosomal dominant
ENSG00000168214	Adams-Oliver syndrome 3, 614814 (3), Autosomal dominant
ENSG00000168216	Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3), Autosomal recessive
ENSG00000168229	{Asthma, susceptibility to, 1}, 607277 (3)
ENSG00000168237	D-glyceric aciduria, 220120 (3), Autosomal recessive
ENSG00000168263	Retinal cone dystrophy 3B, 610356 (3), Autosomal recessive
ENSG00000168264	?Immunodeficiency, common variable, 14, 617765 (3), Autosomal dominant
ENSG00000168267	Pancreatic agenesis 2, 615935 (3), Autosomal recessive; Pancreatic and cerebellar agenesis, 609069 (3), Autosomal recessive
ENSG00000168269	Enlarged vestibular aqueduct, 600791 (3), Autosomal recessive
ENSG00000168275	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 (3), Autosomal recessive
ENSG00000168280	Cortical dysplasia, complex, with other brain malformations 2, 615282 (3), Autosomal dominant
ENSG00000168282	Congenital disorder of glycosylation, type IIa, 212066 (3), Autosomal recessive
ENSG00000168288	Homocystinuria, cblD type, variant 1, 277410 (3), Autosomal recessive; Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3), Autosomal recessive; Methylmalonic aciduria, cblD type, variant 2, 277410 (3), Autosomal recessive
ENSG00000168291	Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
ENSG00000168298	Rahman syndrome, 617537 (3), Autosomal dominant
ENSG00000168303	Trichothiodystrophy 4, nonphotosensitive, 234050 (3), Autosomal recessive
ENSG00000168306	Bile acid synthesis defect, congenital, 6, 617308 (3), Autosomal recessive
ENSG00000168329	{Coronary artery disease, resistance to}, 607339 (3); {Macular degeneration, age-related, 12}, 613784 (3); {Rapid progression to AIDS from HIV1 infection}, 609423 (3)
ENSG00000168356	Episodic pain syndrome, familial, 3, 615552 (3), Autosomal dominant; Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3), Autosomal dominant
ENSG00000168389	Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive
ENSG00000168394	Bare lymphocyte syndrome, type I, 604571 (3), Autosomal recessive
ENSG00000168411	?Fanconi anemia, complementation group W, 617784 (3), Autosomal recessive
ENSG00000168434	Congenital disorder of glycosylation, type IIe, 608779 (3)
ENSG00000168447	Bronchiectasis with or without elevated sweat chloride 1, 211400 (3), Autosomal dominant; Liddle syndrome 1, 177200 (3), Autosomal dominant; Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive
ENSG00000168453	Alopecia universalis, 203655 (3), Autosomal recessive; Atrichia with papular lesions, 209500 (3), Autosomal recessive; Hypotrichosis 4, 146550 (3), Autosomal dominant
ENSG00000168477	Ehlers-Danlos syndrome, classic-like, 1, 606408 (3), Autosomal recessive; Vesicoureteral reflux 8, 615963 (3), Autosomal dominant
ENSG00000168484	Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3), Autosomal dominant
ENSG00000168487	Osteogenesis imperfecta, type XIII, 614856 (3), Autosomal recessive
ENSG00000168509	Hemochromatosis, type 2A, 602390 (3), Autosomal recessive
ENSG00000168538	Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 (3), Autosomal recessive
ENSG00000168542	Ehlers-Danlos syndrome, vascular type, 130050 (3), Autosomal dominant
ENSG00000168575	Basal ganglia calcification, idiopathic, 1, 213600 (3), Autosomal dominant
ENSG00000168610	Autoimmune disease, multisystem, infantile-onset, 1, 615952 (3), Autosomal dominant; Hyper-IgE recurrent infection syndrome, 147060 (3), Autosomal dominant
ENSG00000168615	Cone-rod dystrophy 9, 612775 (3)
ENSG00000168621	Central hypoventilation syndrome, 209880 (3), Autosomal dominant; {Hirschsprung disease, susceptibility to, 3}, 613711 (3), Autosomal dominant; {Pheochromocytoma, modifier of}, 171300 (3), Autosomal dominant
ENSG00000168646	Colorectal cancer, somatic, 114500 (3); Oligodontia-colorectal cancer syndrome, 608615 (3), Autosomal dominant
ENSG00000168658	?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3), Autosomal recessive
ENSG00000168685	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3), Autosomal recessive
ENSG00000168724	Bone marrow failure syndrome 3, 617052 (3), Autosomal recessive
ENSG00000168769	Myelodysplastic syndrome, somatic, 614286 (3)
ENSG00000168778	Joubert syndrome 24, 616654 (3), Autosomal recessive; ?Meckel syndrome 8, 613885 (3), Autosomal recessive
ENSG00000168827	Combined oxidative phosphorylation deficiency 1, 609060 (3), Autosomal recessive
ENSG00000168878	Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3), Autosomal recessive
ENSG00000168944	Joubert syndrome 31, 617761 (3), Autosomal recessive; Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3), Autosomal recessive
ENSG00000168955	{Specific language impairment 5}, 615432 (3), Autosomal dominant
ENSG00000168958	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3), Autosomal recessive
ENSG00000168993	Epileptic encephalopathy, early infantile, 63, 617976 (3), Autosomal recessive
ENSG00000169031	Alport syndrome, autosomal dominant, 104200 (3), Autosomal dominant; Alport syndrome, autosomal recessive, 203780 (3), Autosomal recessive; Hematuria, benign familial, 141200 (3), Autosomal dominant
ENSG00000169032	Cardiofaciocutaneous syndrome 3, 615279 (3)
ENSG00000169047	{Coronary artery disease, susceptibility to} (3); {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant
ENSG00000169057	{Autism susceptibility, X-linked 3}, 300496 (3), Isolated cases, X-linked, Multifactorial; Encephalopathy, neonatal severe, 300673 (3), X-linked recessive; Mental retardation, X-linked syndromic, Lubs type, 300260 (3), X-linked recessive; Mental retardation, X-linked, syndromic 13, 300055 (3), X-linked recessive; Rett syndrome, 312750 (3), X-linked dominant; Rett syndrome, atypical, 312750 (3), X-linked dominant; Rett syndrome, preserved speech variant, 312750 (3), X-linked dominant
ENSG00000169071	Brachydactyly, type B1, 113000 (3), Autosomal dominant; Robinow syndrome, autosomal recessive, 268310 (3), Autosomal recessive
ENSG00000169083	Androgen insensitivity, 300068 (3), X-linked recessive; Androgen insensitivity, partial, with or without breast cancer, 312300 (3), X-linked recessive; Hypospadias 1, X-linked, 300633 (3), X-linked recessive; {Prostate cancer, susceptibility to}, 176807 (3), Autosomal dominant; Spinal and bulbar muscular atrophy of Kennedy, 313200 (3), X-linked recessive
ENSG00000169105	Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3), Autosomal recessive
ENSG00000169126	Ciliary dyskinesia, primary, 23, 615451 (3), Autosomal recessive
ENSG00000169169	?Spastic paraplegia 73, autosomal dominant, 616282 (3), Autosomal dominant
ENSG00000169174	Hypercholesterolemia, familial, 3, 603776 (3); {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
ENSG00000169184	Meningioma, 607174 (3), Autosomal dominant
ENSG00000169194	{Allergic rhinitis, susceptibility to}, 607154 (3); {Asthma, susceptibility to}, 600807 (3), Autosomal dominant
ENSG00000169218	Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3), Autosomal recessive; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3), Autosomal recessive
ENSG00000169247	Charcot-Marie-Tooth disease, type 4C, 601596 (3), Autosomal recessive; Mononeuropathy of the median nerve, mild, 613353 (3), Autosomal dominant
ENSG00000169252	{Asthma, nocturnal, susceptibility to}, 600807 (3), Autosomal dominant; Beta-2-adrenoreceptor agonist, reduced response to (3); {Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial
ENSG00000169255	[Blood group, P1PK system, P(k) phenotype], 111400 (3); [Blood group, globoside system], 615021 (3)
ENSG00000169271	?Neuronopathy, distal hereditary motor, type IIC, 613376 (3), Autosomal dominant
ENSG00000169297	Adrenal hypoplasia, congenital, 300200 (3), X-linked recessive; 46XY sex reversal 2, dosage-sensitive, 300018 (3), X-linked
ENSG00000169306	Mental retardation, X-linked 21/34, 300143 (3), X-linked recessive
ENSG00000169313	Bleeding disorder, platelet-type, 8, 609821 (3), Autosomal recessive
ENSG00000169344	Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3); Hyperuricemic nephropathy, familial juvenile 1, 162000 (3), Autosomal dominant; Medullary cystic kidney disease 2, 603860 (3)
ENSG00000169359	Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3), Autosomal recessive; Spastic paraplegia 42, autosomal dominant, 612539 (3), Autosomal dominant
ENSG00000169372	Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 (3), Autosomal recessive
ENSG00000169375	Witteveen-Kolk syndrome, 613406 (3), Autosomal dominant
ENSG00000169379	Joubert syndrome 8, 612291 (3), Autosomal recessive
ENSG00000169427	Birk-Barel mental retardation dysmorphism syndrome, 612292 (3)
ENSG00000169432	{Dravet syndrome, modifier of}, 607208 (3), Autosomal dominant; Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3), Autosomal dominant; Erythermalgia, primary, 133020 (3), Autosomal dominant; Febrile seizures, familial, 3B, 613863 (3), Autosomal dominant; HSAN2D, autosomal recessive, 243000 (3), Autosomal recessive; Insensitivity to pain, congenital, 243000 (3), Autosomal recessive; Paroxysmal extreme pain disorder,, 167400 (3), Autosomal dominant; Small fiber neuropathy, 133020 (3), Autosomal dominant
ENSG00000169515	3-M syndrome 3, 614205 (3), Autosomal recessive
ENSG00000169554	Mowat-Wilson syndrome, 235730 (3), Autosomal dominant
ENSG00000169562	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3), X-linked dominant
ENSG00000169567	Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3), Autosomal recessive
ENSG00000169599	Multiple mitochondrial dysfunctions syndrome 1, 605711 (3), Autosomal recessive
ENSG00000169604	GAPO syndrome, 230740 (3), Autosomal recessive; {?Hemangioma, capillary infantile, susceptibility to}, 602089 (3), Autosomal dominant
ENSG00000169607	Filippi syndrome, 272440 (3), Autosomal recessive
ENSG00000169676	{Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3), Autosomal dominant; {Blepharospasm, primary benign}, 606798 (3), Isolated cases
ENSG00000169679	Colorectal cancer with chromosomal instability, somatic (3)
ENSG00000169684	{Lung cancer susceptibility 2}, 612052 (3); {Nicotine dependence, susceptibility to}, 612052 (3)
ENSG00000169692	Lipodystrophy, congenital generalized, type 1, 608594 (3), Autosomal recessive
ENSG00000169696	Alveolar soft-part sarcoma, 606243 (3)
ENSG00000169704	Bernard-Soulier syndrome, type C, 231200 (3), Autosomal recessive
ENSG00000169714	Myotonic dystrophy 2, 602668 (3), Autosomal dominant
ENSG00000169738	[Pentosuria], 260800 (3), Autosomal recessive
ENSG00000169762	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 (3), Autosomal recessive
ENSG00000169783	Mental retardation, autosomal recessive 64, 618103 (3), Autosomal recessive
ENSG00000169814	Biotinidase deficiency, 253260 (3), Autosomal recessive
ENSG00000169836	Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3), Autosomal recessive
ENSG00000169884	Split-hand/foot malformation 6, 225300 (3), Autosomal recessive; Tooth agenesis, selective, 8, 617073 (3), Autosomal dominant
ENSG00000169896	{Systemic lupus erythematous, association with susceptibility to, 6}, 609939 (3)
ENSG00000169919	Mucopolysaccharidosis VII, 253220 (3), Autosomal recessive
ENSG00000169933	Mental retardation, X-linked 104, 300983 (3), X-linked recessive
ENSG00000169946	Diaphragmatic hernia 3, 610187 (3); Tetralogy of Fallot, 187500 (3), Autosomal dominant; 46XY sex reversal 9, 616067 (3), Autosomal dominant
ENSG00000170027	Epileptic encephalopathy, early infantile, 56, 617665 (3), Autosomal dominant
ENSG00000170099	Corticosteroid-binding globulin deficiency, 611489 (3), Autosomal recessive, Autosomal dominant
ENSG00000170113	Spastic paraplegia 6, autosomal dominant, 600363 (3), Autosomal dominant
ENSG00000170175	Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3), Autosomal dominant; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3), Autosomal recessive
ENSG00000170180	[Blood group, MNSs system], 111300 (3); {Malaria, resistance to}, 611162 (3)
ENSG00000170262	Glucocorticoid deficiency 2, 607398 (3), Autosomal recessive
ENSG00000170264	Retinitis pigmentosa 28, 606068 (3)
ENSG00000170266	GM1-gangliosidosis, type I, 230500 (3), Autosomal recessive; GM1-gangliosidosis, type II, 230600 (3), Autosomal recessive; GM1-gangliosidosis, type III, 230650 (3), Autosomal recessive; Mucopolysaccharidosis type IVB (Morquio), 253010 (3), Autosomal recessive
ENSG00000170275	Osteogenesis imperfecta, type VII, 610682 (3), Autosomal recessive
ENSG00000170289	Achromatopsia 3, 262300 (3), Autosomal recessive; Macular degeneration, juvenile, 248200 (3), Autosomal recessive
ENSG00000170370	Schizencephaly, 269160 (3)
ENSG00000170374	Osteogenesis imperfecta, type XII, 613849 (3), Autosomal recessive
ENSG00000170381	?CHARGE syndrome, 214800 (3), Autosomal dominant
ENSG00000170421	Cirrhosis, cryptogenic, 215600 (3), Autosomal recessive; {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3), Autosomal recessive
ENSG00000170426	Ichthyosis, congenital, autosomal recessive 13, 617574 (3), Autosomal recessive
ENSG00000170442	Monilethrix, 158000 (3), Autosomal dominant
ENSG00000170445	Charcot-Marie-Tooth disease, axonal, type 2W, 616625 (3), Autosomal dominant; Usher syndrome type 3B, 614504 (3), Autosomal recessive
ENSG00000170454	{Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
ENSG00000170465	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3), Autosomal dominant
ENSG00000170477	White sponge nevus 1, 193900 (3), Autosomal dominant
ENSG00000170484	?Ectodermal dysplasia 7, hair/nail type, 614929 (3), Autosomal recessive; ?Hypotrichosis 3, 613981 (3), Autosomal dominant; Woolly hair, autosomal dominant, 194300 (3), Autosomal dominant
ENSG00000170498	?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3), Autosomal recessive
ENSG00000170523	Erythrokeratodermia variabilis et progressiva 5, 617756 (3), Autosomal recessive; Monilethrix, 158000 (3), Autosomal dominant
ENSG00000170540	?Spastic paraplegia 61, autosomal recessive, 615685 (3), Autosomal recessive
ENSG00000170581	Immunodeficiency 44, 616636 (3), Autosomal recessive
ENSG00000170615	?Deafness, autosomal recessive 61, 613865 (3), Autosomal recessive
ENSG00000170624	Cardiomyopathy, dilated, 1L, 606685 (3); Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 (3), Autosomal recessive
ENSG00000170734	Xeroderma pigmentosum, variant type, 278750 (3), Autosomal recessive
ENSG00000170819	Cataract 12, multiple types, 611597 (3), Autosomal dominant
ENSG00000170820	Ovarian dysgenesis 1, 233300 (3), Autosomal recessive; Ovarian hyperstimulation syndrome, 608115 (3), Autosomal dominant; Ovarian response to FSH stimulation, 276400 (3), Autosomal recessive
ENSG00000170835	Maturity-onset diabetes of the young, type VIII, 609812 (3), Autosomal dominant
ENSG00000170836	Breast cancer, somatic, 114480 (3); Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, 617450 (3), Autosomal dominant
ENSG00000170876	Arrhythmogenic right ventricular dysplasia 5, 604400 (3), Autosomal dominant; Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3), Autosomal dominant
ENSG00000170881	Renal cell carcinoma, 144700 (3)
ENSG00000170892	?Pontocerebellar hypoplasia type 2C, 612390 (3)
ENSG00000170927	Polycystic kidney disease 4, with or without hepatic disease, 263200 (3), Autosomal recessive
ENSG00000171094	{Neuroblastoma, susceptibility to, 3}, 613014 (3)
ENSG00000171100	Myotubular myopathy, X-linked, 310400 (3), X-linked recessive
ENSG00000171105	Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3); Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3), Autosomal dominant; Leprechaunism, 246200 (3), Autosomal recessive; Rabson-Mendenhall syndrome, 262190 (3), Autosomal recessive
ENSG00000171124	[Blood group, Lewis] (3)
ENSG00000171135	Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3), Autosomal recessive
ENSG00000171155	Tn polyagglutination syndrome, somatic, 300622 (3)
ENSG00000171195	{Asthma, protection against}, 600807 (3), Autosomal dominant
ENSG00000171202	Optic atrophy 7, 612989 (3), Autosomal recessive
ENSG00000171204	Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000171298	Glycogen storage disease II, 232300 (3), Autosomal recessive
ENSG00000171302	Desbuquois dysplasia 1, 251450 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 7, 617719 (3), Autosomal recessive
ENSG00000171303	Pulmonary hypertension, primary, 4, 615344 (3), Autosomal dominant
ENSG00000171316	CHARGE syndrome, 214800 (3), Autosomal dominant; Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3), Autosomal dominant
ENSG00000171320	Roberts syndrome, 268300 (3), Autosomal recessive; SC phocomelia syndrome, 269000 (3), Autosomal recessive
ENSG00000171365	Dent disease, 300009 (3), X-linked recessive; Hypophosphatemic rickets, 300554 (3), X-linked recessive; Nephrolithiasis, type I, 310468 (3), X-linked recessive; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3), X-linked recessive
ENSG00000171385	Brugada syndrome 9, 616399 (3), Autosomal dominant; Spinocerebellar ataxia 19, 607346 (3), Autosomal dominant
ENSG00000171401	White sponge nevus 2, 615785 (3), Autosomal dominant
ENSG00000171403	Palmoplantar keratoderma, epidermolytic, 144200 (3), Autosomal dominant
ENSG00000171444	Colorectal cancer, somatic, 114500 (3)
ENSG00000171453	Leukodystrophy, hypomyelinating, 11, 616494 (3), Autosomal recessive; Treacher Collins syndrome 3, 248390 (3), Autosomal recessive
ENSG00000171456	Bohring-Opitz syndrome, 605039 (3), Autosomal dominant; Myelodysplastic syndrome, somatic, 614286 (3)
ENSG00000171503	Glutaric acidemia IIC, 231680 (3), Autosomal recessive
ENSG00000171551	Arthrogryposis, distal, type 5D, 615065 (3), Autosomal recessive
ENSG00000171557	Afibrinogenemia, congenital, 202400 (3), Autosomal recessive; Dysfibrinogenemia, congenital, 616004 (3); Hypodysfibrinogenemia, 616004 (3); Hypofibrinogenemia, congenital, 202400 (3), Autosomal recessive
ENSG00000171560	Afibrinogenemia, congenital, 202400 (3), Autosomal recessive; Amyloidosis, familial visceral, 105200 (3), Autosomal dominant; Dysfibrinogenemia, congenital, 616004 (3); Hypodysfibrinogenemia, congenital, 616004 (3)
ENSG00000171564	Afibrinogenemia, congenital, 202400 (3), Autosomal recessive; Dysfibrinogenemia, congenital, 616004 (3); Hypofibrinogenemia, congenital, 202400 (3), Autosomal recessive
ENSG00000171595	Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
ENSG00000171608	Immunodeficiency 14, 615513 (3), Autosomal dominant
ENSG00000171634	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3), Autosomal dominant
ENSG00000171680	Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3), Autosomal recessive; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3), Autosomal recessive
ENSG00000171714	Gnathodiaphyseal dysplasia, 166260 (3), Autosomal dominant; Miyoshi muscular dystrophy 3, 613319 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3), Autosomal recessive
ENSG00000171723	Molybdenum cofactor deficiency C, 615501 (3), Autosomal recessive
ENSG00000171735	Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3), Autosomal dominant
ENSG00000171759	[Hyperphenylalaninemia, non-PKU mild], 261600 (3), Autosomal recessive; Phenylketonuria, 261600 (3), Autosomal recessive
ENSG00000171766	Cerebral creatine deficiency syndrome 3, 612718 (3), Autosomal recessive
ENSG00000171772	?Premature ovarian failure 12, 616947 (3), Autosomal recessive; ?Spermatogenic failure 15, 616950 (3), Autosomal recessive
ENSG00000171791	Leukemia/lymphoma, B-cell, 2 (3)
ENSG00000171793	Immunodeficiency 24, 615897 (3), Autosomal recessive
ENSG00000171812	Corneal dystrophy, Fuchs endothelial, 1, 136800 (3), Autosomal dominant; Corneal dystrophy, posterior polymorphous 2, 609140 (3), Autosomal dominant
ENSG00000171853	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 (3), Autosomal recessive
ENSG00000171862	Bannayan-Riley-Ruvalcaba syndrome, 153480 (3); Cowden syndrome 1, 158350 (3), Autosomal dominant; {Glioma susceptibility 2}, 613028 (3); Lhermitte-Duclos syndrome, 158350 (3), Autosomal dominant; Macrocephaly/autism syndrome, 605309 (3), Autosomal dominant; {Meningioma}, 607174 (3), Autosomal dominant; PTEN hamartoma tumor syndrome (3); {Prostate cancer, somatic}, 176807 (3); VATER association with macrocephaly and ventriculomegaly, 276950 (3), Autosomal recessive
ENSG00000171863	Diamond-Blackfan anemia 8, 612563 (3), Autosomal dominant
ENSG00000171865	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 (3), Autosomal recessive
ENSG00000171867	Cerebral amyloid angiopathy, PRNP-related, 137440 (3), Autosomal dominant; Creutzfeldt-Jakob disease, 123400 (3), Autosomal dominant; Gerstmann-Straussler disease, 137440 (3), Autosomal dominant; Huntington disease-like 1, 603218 (3), Autosomal dominant; Insomnia, fatal familial, 600072 (3), Autosomal dominant; {Kuru, susceptibility to}, 245300 (3); Prion disease with protracted course, 606688 (3), Autosomal dominant
ENSG00000171953	?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3), Autosomal recessive
ENSG00000171954	Ichthyosis, congenital, autosomal recessive 5, 604777 (3), Autosomal recessive
ENSG00000172007	Smith-McCort dysplasia 2, 615222 (3), Autosomal recessive
ENSG00000172037	Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3); Pierson syndrome, 609049 (3), Autosomal recessive
ENSG00000172053	Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3), Autosomal recessive
ENSG00000172059	Maturity-onset diabetes of the young, type VII, 610508 (3)
ENSG00000172062	Spinal muscular atrophy-1, 253300 (3), Autosomal recessive; Spinal muscular atrophy-2, 253550 (3), Autosomal recessive; Spinal muscular atrophy-3, 253400 (3), Autosomal recessive; Spinal muscular atrophy-4, 271150 (3), Autosomal recessive
ENSG00000172071	Wolcott-Rallison syndrome, 226980 (3), Autosomal recessive
ENSG00000172115	Thrombocytopenia 4, 612004 (3), Autosomal dominant
ENSG00000172156	{Asthma, susceptibility to}, 600807 (3), Autosomal dominant; {HIV1, resistance to}, 609423 (3)
ENSG00000172175	Immunodeficiency 12, 615468 (3), Autosomal recessive
ENSG00000172243	{Aspergillosis, susceptibility to}, 614079 (3); Candidiasis, familial, 4, autosomal recessive, 613108 (3), Autosomal recessive
ENSG00000172269	Congenital disorder of glycosylation, type Ij, 608093 (3), Autosomal recessive; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3), Autosomal recessive
ENSG00000172270	[Blood group, OK], 111380 (3)
ENSG00000172315	Galloway-Mowat syndrome 4, 617730 (3), Autosomal recessive
ENSG00000172331	Erythrocytosis due to bisphosphoglycerate mutase deficiency, 222800 (3), Autosomal recessive
ENSG00000172339	?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 (3)
ENSG00000172361	Heterotaxy, visceral, 6, autosomal recessive, 614779 (3), Autosomal recessive
ENSG00000172379	?Webb-Dattani syndrome, 615926 (3), Autosomal recessive
ENSG00000172399	Cardiomyopathy, hypertrophic, 16, 613838 (3), Autosomal dominant
ENSG00000172409	Pontocerebellar hypoplasia, type 10, 615803 (3), Autosomal recessive
ENSG00000172426	Ciliary dyskinesia, primary, 12, 612650 (3)
ENSG00000172432	Jaberi-Elahi syndrome, 617988 (3), Autosomal recessive
ENSG00000172482	Hyperoxaluria, primary, type 1, 259900 (3), Autosomal recessive
ENSG00000172500	Thauvin-Robinet-Faivre syndrome, 617107 (3), Autosomal recessive
ENSG00000172534	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3), X-linked recessive
ENSG00000172548	Ichthyosis, congenital, autosomal recessive 6, 612281 (3), Autosomal recessive
ENSG00000172572	Hypertension and brachydactyly syndrome, 112410 (3), Autosomal dominant
ENSG00000172638	Cutis laxa, autosomal recessive, type IB, 614437 (3), Autosomal recessive
ENSG00000172817	Bile acid synthesis defect, congenital, 3, 613812 (3), Autosomal recessive; Spastic paraplegia 5A, autosomal recessive, 270800 (3), Autosomal recessive
ENSG00000172867	Ichthyosis bullosa of Siemens, 146800 (3), Autosomal dominant
ENSG00000172893	Smith-Lemli-Opitz syndrome, 270400 (3), Autosomal recessive
ENSG00000172922	Aicardi-Goutieres syndrome 3, 610329 (3), Autosomal recessive
ENSG00000172936	Macroglobulinemia, Waldenstrom, somatic, 153600 (3); Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)
ENSG00000172943	Mental retardation syndrome, X-linked, Siderius type, 300263 (3), X-linked recessive
ENSG00000172987	Urofacial syndrome 1, 236730 (3), Autosomal recessive
ENSG00000173040	Ellis-van Creveld syndrome, 225500 (3), Autosomal recessive; Weyers acrofacial dysostosis, 193530 (3), Autosomal dominant
ENSG00000173085	Coenzyme Q10 deficiency, primary, 1, 607426 (3), Autosomal recessive; {Multiple system atrophy, susceptibility to}, 146500 (3), Autosomal recessive, Autosomal dominant
ENSG00000173175	Dyskinesia, familial, with facial myokymia, 606703 (3), Autosomal dominant
ENSG00000173218	Caudal regression syndrome, 600145 (3), Autosomal dominant; {Neural tube defects, susceptibility to}, 182940 (3), Autosomal dominant
ENSG00000173226	Senior-Loken syndrome 5, 609254 (3), Autosomal recessive
ENSG00000173369	C1q deficiency, 613652 (3), Autosomal recessive
ENSG00000173372	C1q deficiency, 613652 (3), Autosomal recessive
ENSG00000173391	{Myocardial infarction, susceptibility to}, 608446 (3)
ENSG00000173402	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3), Autosomal recessive
ENSG00000173406	Spinocerebellar ataxia 37, 615945 (3), Autosomal dominant
ENSG00000173409	Epileptic encephalopathy, early infantile, 38, 617020 (3), Autosomal recessive
ENSG00000173540	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3), Autosomal recessive
ENSG00000173575	Epileptic encephalopathy, childhood-onset, 615369 (3), Autosomal dominant
ENSG00000173588	Nephronophthisis 18, 615862 (3), Autosomal recessive
ENSG00000173599	Pyruvate carboxylase deficiency, 266150 (3), Autosomal recessive
ENSG00000173614	Leber congenital amaurosis 9, 608553 (3), Autosomal recessive
ENSG00000173698	Congenital bilateral absence of vas deferens, X-linked, 300985 (3), X-linked
ENSG00000173757	Growth hormone insensitivity with immunodeficiency, 245590 (3); Leukemia, acute promyelocytic, somatic, 102578 (3)
ENSG00000173801	Arrhythmogenic right ventricular dysplasia 12, 611528 (3), Autosomal dominant; Naxos disease, 601214 (3), Autosomal recessive
ENSG00000173821	{Moyamoya disease 2, susceptibility to}, 607151 (3)
ENSG00000173894	?46XY sex reversal 5, 613080 (3), Autosomal recessive
ENSG00000173898	Spinocerebellar ataxia 5, 600224 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 14, 615386 (3), Autosomal recessive
ENSG00000173976	Cone-rod dystrophy 11, 610381 (3), Autosomal dominant; ?Macular degeneration, age-related, 6, 613757 (3)
ENSG00000173991	Cardiomyopathy, hypertrophic, 25, 607487 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3), Autosomal recessive
ENSG00000174007	Morbid obesity and spermatogenic failure, 615703 (3), Autosomal recessive
ENSG00000174010	Mental retardation, X-linked 103, 300982 (3), X-linked recessive
ENSG00000174080	Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3), Autosomal recessive
ENSG00000174099	Deafness, autosomal recessive 74, 613718 (3), Autosomal recessive
ENSG00000174106	Buschke-Ollendorff syndrome, 166700 (3), Autosomal dominant; Osteopoikilosis with or without melorheostosis, 166700 (3), Autosomal dominant
ENSG00000174125	{Leprosy, protection against}, 613223 (3); {Leprosy, susceptibility to, 5}, 613223 (3)
ENSG00000174173	Combined oxidative phosphorylation deficiency 30, 616974 (3), Autosomal recessive
ENSG00000174177	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)
ENSG00000174227	Mental retardation, autosomal recessive 53, 616917 (3), Autosomal recessive
ENSG00000174231	Retinitis pigmentosa 13, 600059 (3), Autosomal dominant
ENSG00000174233	?Lethal congenital contracture syndrome 8, 616287 (3), Autosomal recessive
ENSG00000174358	Hartnup disorder, 234500 (3), Autosomal recessive; Hyperglycinuria, 138500 (3), Autosomal dominant; Iminoglycinuria, digenic, 242600 (3), Autosomal recessive, Digenic recessive
ENSG00000174405	LIG4 syndrome, 606593 (3), Autosomal recessive; {Multiple myeloma, resistance to}, 254500 (3), Somatic mutation
ENSG00000174417	Thyrotropin-releasing hormone resistance, generalized (3)
ENSG00000174437	Acrokeratosis verruciformis, 101900 (3), Autosomal dominant; Darier disease, 124200 (3), Autosomal dominant
ENSG00000174469	{Autism susceptibility 15}, 612100 (3); Cortical dysplasia-focal epilepsy syndrome, 610042 (3), Autosomal recessive; Pitt-Hopkins like syndrome 1, 610042 (3), Autosomal recessive
ENSG00000174483	Bardet-Biedl syndrome 1, 209900 (3), Autosomal recessive, Digenic recessive
ENSG00000174611	Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive
ENSG00000174640	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3), Autosomal recessive
ENSG00000174684	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 (3), Autosomal recessive
ENSG00000174697	Obesity, morbid, due to leptin deficiency, 614962 (3), Autosomal recessive
ENSG00000174705	Frank-ter Haar syndrome, 249420 (3), Autosomal recessive
ENSG00000174720	Alazami syndrome, 615071 (3), Autosomal recessive
ENSG00000174748	?Diamond-Blackfan anemia 12, 615550 (3), Autosomal dominant
ENSG00000174775	{Bladder cancer, somatic}, 109800 (3); Congenital myopathy with excess of muscle spindles, 218040 (3), Autosomal dominant, Isolated cases; Costello syndrome, 218040 (3), Autosomal dominant, Isolated cases; {Nevus sebaceous or woolly hair nevus, somatic}, 162900 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3); {Spitz nevus or nevus spilus, somatic}, 137550 (3); {Thyroid carcinoma, follicular, somatic}, 188470 (3)
ENSG00000174780	Bone marrow failure syndrome 1, 614675 (3), Autosomal dominant
ENSG00000174792	Amelogenesis imperfecta, type IIA4, 614832 (3), Autosomal recessive
ENSG00000174799	Microcephaly 8, primary, autosomal recessive, 614673 (3), Autosomal recessive
ENSG00000174804	Exudative vitreoretinopathy 1, 133780 (3), Autosomal dominant; Retinopathy of prematurity, 133780 (3), Autosomal dominant
ENSG00000174842	Glomuvenous malformations, 138000 (3), Autosomal dominant
ENSG00000174886	Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000174951	[Bombay phenotype], 616754 (3), Autosomal recessive
ENSG00000174990	Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3), Autosomal recessive
ENSG00000174996	Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3), Autosomal recessive
ENSG00000175054	?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3), Autosomal dominant; Seckel syndrome 1, 210600 (3), Autosomal recessive
ENSG00000175065	Hypotrichosis 6, 607903 (3), Autosomal recessive
ENSG00000175084	Cardiomyopathy, dilated, 1I, 604765 (3); Myopathy, myofibrillar, 1, 601419 (3), Autosomal recessive, Autosomal dominant; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3), Autosomal dominant
ENSG00000175097	Combined cellular and humoral immune defects with granulomas, 233650 (3), Autosomal recessive; Omenn syndrome, 603554 (3), Autosomal recessive; Severe combined immunodeficiency, B cell-negative, 601457 (3), Autosomal recessive
ENSG00000175110	Combined oxidative phosphorylation deficiency 5, 611719 (3), Autosomal recessive; Ovarian dysgenesis 7, 618117 (3)
ENSG00000175115	Schuurs-Hoeijmakers syndrome, 615009 (3), Autosomal dominant
ENSG00000175164	[Blood group, ABO system], 616093 (3)
ENSG00000175198	Propionicacidemia, 606054 (3), Autosomal recessive
ENSG00000175206	Atrial fibrillation, familial, 6, 612201 (3), Autosomal dominant; Atrial standstill 2, 615745 (3), Autosomal recessive
ENSG00000175213	?Exudative vitreoretinopathy 6, 616468 (3), Autosomal dominant; Retinitis pigmentosa 72, 616469 (3), Autosomal recessive
ENSG00000175283	Congenital disorder of glycosylation, type Im, 610768 (3), Autosomal recessive
ENSG00000175294	Spermatogenic failure 7, 612997 (3), Autosomal recessive
ENSG00000175309	[?Phosphohydroxylysinuria], 615011 (3)
ENSG00000175325	Pituitary hormone deficiency, combined, 2, 262600 (3), Autosomal recessive
ENSG00000175334	Nestor-Guillermo progeria syndrome, 614008 (3), Autosomal recessive
ENSG00000175426	Obesity with impaired prohormone processing, 600955 (3), Autosomal recessive; {Obesity, susceptibility to, BMIQ12}, 612362 (3)
ENSG00000175445	Combined hyperlipidemia, familial, 144250 (3), Autosomal dominant; [High density lipoprotein cholesterol level QTL 11] (3); Lipoprotein lipase deficiency, 238600 (3), Autosomal recessive
ENSG00000175505	Cold-induced sweating syndrome 2, 610313 (3), Autosomal recessive
ENSG00000175535	?Pancreatic lipase deficiency, 614338 (3), Autosomal recessive
ENSG00000175536	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3), Autosomal recessive
ENSG00000175538	Brugada syndrome 6, 613119 (3)
ENSG00000175544	Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3), Autosomal recessive
ENSG00000175564	{Obesity, severe, and type II diabetes}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial
ENSG00000175567	{Obesity, susceptibility to, BMIQ4}, 607447 (3)
ENSG00000175595	Fanconi anemia, complementation group Q, 615272 (3), Autosomal recessive; ?XFE progeroid syndrome, 610965 (3); Xeroderma pigmentosum, group F, 278760 (3), Autosomal recessive; Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3), Autosomal recessive
ENSG00000175600	Glutaric aciduria III, 231690 (3), Autosomal recessive
ENSG00000175606	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3), Autosomal recessive
ENSG00000175707	?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, 617337 (3), Autosomal dominant
ENSG00000175745	Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 (3), Autosomal dominant
ENSG00000175894	?Deafness, autosomal recessive 98, 614861 (3), Autosomal recessive
ENSG00000175899	Alpha-2-macroglobulin deficiency, 614036 (1), Autosomal dominant; {Alzheimer disease, susceptibility to}, 104300 (3), Autosomal dominant
ENSG00000175920	?Fetal akinesia deformation sequence, 208150 (3), Autosomal recessive; Myasthenic syndrome, congenital, 10, 254300 (3), Autosomal recessive
ENSG00000176014	?Facial palsy, congenitla, with ptosis and velopharyngeal dysfunction, 617732 (3), Autosomal dominant
ENSG00000176022	Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3), Autosomal recessive; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3), Autosomal recessive
ENSG00000176058	Deafness, autosomal recessive 79, 613307 (3), Autosomal recessive
ENSG00000176165	Rett syndrome, congenital variant, 613454 (3), Autosomal dominant
ENSG00000176225	Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3), Autosomal recessive
ENSG00000176340	?Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial
ENSG00000176387	Apparent mineralocorticoid excess, 218030 (3), Autosomal recessive
ENSG00000176619	?Epilepsy, progressive myoclonic, 9, 616540 (3), Autosomal recessive; {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3), Autosomal dominant
ENSG00000176692	Lymphedema-distichiasis syndrome, 153400 (3), Autosomal dominant; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3), Autosomal dominant
ENSG00000176715	Combined malonic and methylmalonic aciduria, 614265 (3)
ENSG00000176842	Hamamy syndrome, 611174 (3), Autosomal recessive
ENSG00000176884	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3), Autosomal dominant; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3), Autosomal recessive
ENSG00000176887	Mental retardation, autosomal dominant 27, 615866 (3), Autosomal dominant
ENSG00000176915	?Microcephaly 16, primary, autosomal recessive, 616681 (3), Autosomal recessive
ENSG00000176920	[Bombay phenotype] (3); {Norwalk virus infection, resistance to} (3); {Vitamin B12 plasma level QTL1}, 612542 (3)
ENSG00000177000	Homocystinuria due to MTHFR deficiency, 236250 (3), Autosomal recessive; {Neural tube defects, susceptibility to}, 601634 (3), Autosomal recessive; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant; {Thromboembolism, susceptibility to}, 188050 (3), Autosomal dominant; {Vascular disease, susceptibility to} (3)
ENSG00000177030	?Dyskinesia, seizures, and intellectual developmental disorder, 617171 (3), Autosomal recessive; Mental retardation, autosomal dominant 24, 615828 (3), Autosomal dominant
ENSG00000177045	Branchiootorenal syndrome 2, 610896 (3)
ENSG00000177082	Galloway-Mowat syndrome 1, 251300 (3), Autosomal recessive
ENSG00000177084	{Colorectal cancer, susceptibility to, 12}, 615083 (3), Autosomal dominant; FILS syndrome, 615139 (3), Autosomal recessive
ENSG00000177098	Atrial fibrillation, familial, 17, 611819 (3), Autosomal dominant; Long QT syndrome-10, 611819 (3), Autosomal dominant
ENSG00000177106	Deafness autosomal recessive 106, 617637 (3), Autosomal recessive
ENSG00000177119	Scott syndrome, 262890 (3), Autosomal recessive
ENSG00000177156	Transaldolase deficiency, 606003 (3), Autosomal recessive
ENSG00000177189	Coffin-Lowry syndrome, 303600 (3), X-linked dominant, Isolated cases; Mental retardation, X-linked 19, 300844 (3), X-linked dominant
ENSG00000177192	Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 (3), Autosomal recessive
ENSG00000177239	Mental retardation, autosomal recessive 15, 614202 (3), Autosomal recessive
ENSG00000177301	Epileptic encephalopathy, early infantile, 32, 616366 (3), Autosomal dominant
ENSG00000177302	Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3), Autosomal recessive; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (3), Autosomal recessive
ENSG00000177409	Ataxia-pancytopenia syndrome, 159550 (3), Autosomal dominant
ENSG00000177426	Holoprosencephaly 4, 142946 (3), Autosomal dominant
ENSG00000177455	Immunodeficiency, common variable, 3, 613493 (3), Autosomal recessive
ENSG00000177469	Lipodystrophy, congenital generalized, type 4, 613327 (3), Autosomal recessive
ENSG00000177542	Epileptic encephalopathy, early infantile, 3, 609304 (3), Autosomal recessive
ENSG00000177565	Mental retardation, autosomal dominant 41, 616944 (3), Autosomal dominant; Pierpont syndrome, 602342 (3), Autosomal dominant
ENSG00000177570	Epilepsy, familial adult myoclonic, 1, 601068 (3), Autosomal dominant
ENSG00000177628	Gaucher disease, perinatal lethal, 608013 (3), Autosomal recessive; Gaucher disease, type I, 230800 (3), Autosomal recessive; Gaucher disease, type II, 230900 (3), Autosomal recessive; Gaucher disease, type III, 231000 (3), Autosomal recessive; Gaucher disease, type IIIC, 231005 (3), Autosomal recessive; {Lewy body dementia, susceptibility to}, 127750 (3), Autosomal dominant; {Parkinson disease, late-onset, susceptibility to}, 168600 (3), Isolated cases, Multifactorial
ENSG00000177646	Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3), Autosomal recessive
ENSG00000177663	Immunodeficiency 51, 613953 (3), Autosomal recessive
ENSG00000177666	Neutral lipid storage disease with myopathy, 610717 (3), Autosomal recessive
ENSG00000177688	{Diabetes mellitus, insulin-dependent, 5}, 600320 (3)
ENSG00000177697	[Blood group, Raph], 179620 (3); Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
ENSG00000177706	Raine syndrome, 259775 (3), Autosomal recessive
ENSG00000177807	Enlarged vestibular aqueduct, digenic, 600791 (3), Autosomal recessive; SESAME syndrome, 612780 (3), Autosomal recessive
ENSG00000177954	?Diamond-Blackfan anemia 17, 617409 (3), Autosomal dominant
ENSG00000177990	Spermatogenic failure 9, 613958 (3), Autosomal recessive
ENSG00000178035	[IMPDH2 enzyme activity, variation in], 617995 (3)
ENSG00000178057	Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000178127	Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000178209	Epidermolysis bullosa simplex with muscular dystrophy, 226670 (3), Autosomal recessive; ?Epidermolysis bullosa simplex with nail dystrophy, 616487 (3), Autosomal recessive; Epidermolysis bullosa simplex with pyloric atresia, 612138 (3), Autosomal recessive; Epidermolysis bullosa simplex, Ogna type, 131950 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723 (3), Autosomal recessive
ENSG00000178222	Recombination rate QTL 1, 612042 (3)
ENSG00000178235	Tourette syndrome, 137580 (3), Autosomal dominant; ?Trichotillomania, 613229 (3), Autosomal dominant, Multifactorial
ENSG00000178394	Periodic fever, menstrual cycle dependent, 614674 (3), Autosomal dominant
ENSG00000178445	Glycine encephalopathy, 605899 (3), Autosomal recessive
ENSG00000178449	?Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial
ENSG00000178522	Amelogenesis imperfecta, type IF, 616270 (3), Autosomal recessive
ENSG00000178537	Carnitine-acylcarnitine translocase deficiency, 212138 (3), Autosomal recessive
ENSG00000178538	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3), Autosomal recessive
ENSG00000178568	Amyotrophic lateral sclerosis 19, 615515 (3), Autosomal dominant
ENSG00000178573	Ayme-Gripp syndrome, 601088 (3), Autosomal dominant; Cataract 21, multiple types, 610202 (3), Autosomal dominant
ENSG00000178726	{Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3), Autosomal dominant; Thrombophilia due to thrombomodulin defect, 614486 (3)
ENSG00000178802	Congenital disorder of glycosylation, type Ib, 602579 (3), Autosomal recessive
ENSG00000178814	5-oxoprolinase deficiency, 260005 (3), Autosomal recessive, Autosomal dominant
ENSG00000178919	Bamforth-Lazarus syndrome, 241850 (3), Autosomal recessive; {Thyroid cancer, nonmedullary, 4}, 616534 (3), Autosomal dominant
ENSG00000178952	Combined oxidative phosphorylation deficiency 4, 610678 (3), Autosomal recessive
ENSG00000178971	Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3), Autosomal recessive
ENSG00000179029	?Joubert syndrome 29, 617562 (3), Autosomal recessive; Meckel syndrome 13, 617562 (3), Autosomal recessive; Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive
ENSG00000179085	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 (3)
ENSG00000179091	Mitochondrial complex III deficiency, nuclear type 6, 615453 (3), Autosomal recessive
ENSG00000179111	Spondylocostal dysostosis 4, autosomal recessive, 613686 (3), Autosomal recessive
ENSG00000179142	Aldosterone to renin ratio raised (3); Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3), Autosomal recessive; Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3), Autosomal recessive; {Low renin hypertension, susceptibility to} (3)
ENSG00000179148	Ichthyosis, congenital, autosomal recessive 3, 606545 (3), Autosomal recessive
ENSG00000179151	?Mental retardation, autosomal recessive 50, 616460 (3), Autosomal recessive
ENSG00000179163	Fucosidosis, 230000 (3), Autosomal recessive
ENSG00000179218	Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3)
ENSG00000179270	Retinitis pigmentosa 54, 613428 (3)
ENSG00000179295	LEOPARD syndrome 1, 151100 (3), Autosomal dominant; Leukemia, juvenile myelomonocytic, somatic, 607785 (3); Metachondromatosis, 156250 (3), Autosomal dominant; Noonan syndrome 1, 163950 (3), Autosomal dominant
ENSG00000179344	{Celiac disease, susceptibility to}, 212750 (3), Autosomal recessive, Multifactorial; {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3), Autosomal dominant; {Multiple sclerosis, susceptibility to, 1}, 126200 (3), Multifactorial
ENSG00000179348	Emberger syndrome, 614038 (3), Autosomal dominant; Immunodeficiency 21, 614172 (3), Autosomal dominant; {Leukemia, acute myeloid, susceptibility to}, 601626 (3), Autosomal dominant; {Myelodysplastic syndrome, susceptibility to}, 614286 (3)
ENSG00000179364	Epileptic encephalopathy, early infantile, 66, 618067 (3), Autosomal dominant
ENSG00000179409	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3), Autosomal recessive
ENSG00000179455	Precocious puberty, central, 2, 615346 (3), Autosomal dominant
ENSG00000179456	Mental retardation, autosomal dominant 22, 612337 (3), Autosomal dominant
ENSG00000179477	Ichthyosis, congenital, autosomal recessive 2, 242100 (3), Autosomal recessive
ENSG00000179520	Deafness, autosomal dominant 25, 605583 (3), Autosomal dominant
ENSG00000179583	Bare lymphocyte syndrome, type II, complementation group A, 209920 (3), Autosomal recessive; {Rheumatoid arthritis, susceptibility to}, 180300 (3)
ENSG00000179627	?Lethal congenital contracture syndrome 6, 616248 (3), Autosomal recessive
ENSG00000179774	Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3), Autosomal recessive
ENSG00000179855	Deafness, autosomal recessive 15, 601869 (3), Autosomal recessive
ENSG00000179915	Pitt-Hopkins-like syndrome 2, 614325 (3), Autosomal recessive; {Schizophrenia, susceptibility to, 17}, 614332 (3)
ENSG00000179941	Bardet-Biedl syndrome 10, 615987 (3), Autosomal recessive
ENSG00000179950	Verheij syndrome, 615583 (3), Autosomal dominant
ENSG00000179981	Aural atresia, congenital, 607842 (3), Autosomal dominant
ENSG00000180053	Conotruncal heart malformations, 217095 (3); Persistent truncus arteriosus, 217095 (3)
ENSG00000180176	Segawa syndrome, recessive, 605407 (3), Autosomal recessive
ENSG00000180210	Dysprothrombinemia, 613679 (3), Autosomal recessive; Hypoprothrombinemia, 613679 (3), Autosomal recessive; {Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3), Autosomal dominant; {Stroke, ischemic, susceptibility to}, 601367 (3), Multifactorial; Thrombophilia due to thrombin defect, 188050 (3), Autosomal dominant
ENSG00000180228	Dystonia 16, 612067 (3), Autosomal recessive
ENSG00000180316	Ichthyosis, congenital, autosomal recessive 10, 615024 (3), Autosomal recessive
ENSG00000180318	?Frontonasal dysplasia 3, 613456 (3)
ENSG00000180398	Factor V and factor VIII, combined deficiency of, 613625 (3)
ENSG00000180509	Jervell and Lange-Nielsen syndrome 2, 612347 (3), Autosomal recessive; Long QT syndrome 5, 613695 (3), Autosomal dominant
ENSG00000180644	Aplastic anemia, 609135 (3); Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3), Autosomal recessive; Lymphoma, non-Hodgkin, 605027 (3)
ENSG00000180875	Tooth agenesis, selective, 9, 617275 (3), Autosomal dominant
ENSG00000180879	Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive
ENSG00000180902	D-2-hydroxyglutaric aciduria, 600721 (3), Autosomal recessive
ENSG00000180921	Amelogenesis imperfecta, type IIIA, 130900 (3), Autosomal dominant
ENSG00000181004	Bardet-Biedl syndrome 12, 615989 (3), Autosomal recessive
ENSG00000181019	{Benzene toxicity, susceptibility to} (3); {Breast cancer, poor survival after chemotherapy for} (3); {Leukemia, post-chemotherapy, susceptibility to} (3)
ENSG00000181027	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3), Autosomal recessive
ENSG00000181038	Mental retardation, autosomal recessive 44, 615942 (3), Autosomal recessive
ENSG00000181090	Kleefstra syndrome 1, 610253 (3), Autosomal dominant
ENSG00000181092	Adiponectin deficiency, 612556 (3)
ENSG00000181163	Leukemia, acute myeloid, somatic, 601626 (3)
ENSG00000181192	2-aminoadipic 2-oxoadipic aciduria, 204750 (3), Autosomal recessive; ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3), Autosomal dominant
ENSG00000181392	Deafness, autosomal recessive 76, 615540 (3), Autosomal recessive
ENSG00000181449	Microphthalmia, syndromic 3, 206900 (3), Autosomal dominant; Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3), Autosomal dominant
ENSG00000181481	Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 (3)
ENSG00000181523	Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3), Autosomal recessive
ENSG00000181541	Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 (3), Autosomal recessive, Autosomal dominant
ENSG00000181544	Fanconi anemia, complementation group B, 300514 (3), X-linked recessive
ENSG00000181555	Luscan-Lumish syndrome, 616831 (3), Autosomal dominant
ENSG00000181585	Deafness, autosomal recessive 6, 600971 (3), Autosomal recessive
ENSG00000181656	?Chorea, childhood-onset, with psychomotor retardation, 616939 (3), Autosomal recessive
ENSG00000181690	Adenomas, salivary gland pleomorphic, somatic, 181030 (3)
ENSG00000181722	Primrose syndrome, 259050 (3), Autosomal dominant
ENSG00000181804	{?Autism susceptibility 16}, 613410 (3)
ENSG00000181830	Congenital disorder of glycosylation, type IIc, 266265 (3), Autosomal recessive
ENSG00000181873	Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive; ?Spastic paraplegia 74, autosomal recessive, 616451 (3), Autosomal recessive
ENSG00000182004	Hypotrichosis 11, 615059 (3), Autosomal dominant
ENSG00000182040	Usher syndrome, type 1G, 606943 (3), Autosomal recessive
ENSG00000182054	D-2-hydroxyglutaric aciduria 2, 613657 (3)
ENSG00000182117	Dyskeratosis congenita, autosomal recessive 1, 224230 (3), Autosomal recessive
ENSG00000182150	Bone marrow failure syndrome 2, 615715 (3), Autosomal recessive
ENSG00000182173	Pontocerebellar hypoplasia type 2A, 277470 (3), Autosomal recessive; Pontocerebellar hypoplasia type 4, 225753 (3), Autosomal recessive; ?Pontocerebellar hypoplasia type 5, 610204 (3), Autosomal recessive
ENSG00000182180	Combined oxidative phosphorylation deficiency 2, 610498 (3), Autosomal recessive
ENSG00000182187	Cataract 39, multiple types, autosomal dominant, 615188 (3), Autosomal dominant
ENSG00000182197	Chondrosarcoma, 215300 (3), Autosomal recessive; Exostoses, multiple, type 1, 133700 (3), Autosomal dominant
ENSG00000182220	Mental retardation, X-linked, syndromic, Hedera type, 300423 (3), X-linked recessive; ?Parkinsonism with spasticity, X-linked, 300911 (3), X-linked recessive
ENSG00000182287	Mental retardation, X-linked syndromic 5, 304340 (3), X-linked recessive
ENSG00000182326	C1s deficiency, 613783 (3); Ehlers-Danlos syndrome, periodontal type, 2, 617174 (3), Autosomal dominant
ENSG00000182372	Ceroid lipofuscinosis, neuronal, 8, 600143 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3), Autosomal recessive
ENSG00000182389	{Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3), Autosomal dominant; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3), Autosomal dominant; Episodic ataxia, type 5, 613855 (3), Autosomal dominant
ENSG00000182400	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862 (3)
ENSG00000182492	Meester-Loeys syndrome, 300989 (3), X-linked; Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3), X-linked recessive
ENSG00000182512	Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3), Autosomal recessive; Spasticity, childhood-onset, with hyperglycinemia, 616859 (3), Autosomal recessive
ENSG00000182533	Cardiomyopathy, familial hypertrophic, 192600 (3), Autosomal dominant; Creatine phosphokinase, elevated serum, 123320 (3), Autosomal dominant; Long QT syndrome 9, 611818 (3), Autosomal dominant; Myopathy, distal, Tateyama type, 614321 (3), Autosomal dominant; Rippling muscle disease, 606072 (3), Autosomal dominant
ENSG00000182578	Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3), Autosomal dominant
ENSG00000182621	Epileptic encephalopathy, early infantile, 12, 613722 (3), Autosomal recessive
ENSG00000182636	Prader-Willi syndrome, 176270 (3), Isolated cases
ENSG00000182759	Insulinomatosis and diabetes mellitus, 147630 (3), Autosomal dominant
ENSG00000182774	Diamond-Blackfan anemia 4, 612527 (3), Autosomal dominant
ENSG00000182858	Congenital disorder of glycosylation, type Ig, 607143 (3), Autosomal recessive
ENSG00000182866	?Immunodeficiency 22, 615758 (3), Autosomal recessive
ENSG00000182871	Knobloch syndrome, type 1, 267750 (3), Autosomal recessive
ENSG00000182872	TARP syndrome, 311900 (3), X-linked recessive
ENSG00000182890	{Parkinson disease, age of onset, modifier}, 168600 (3), Isolated cases, Multifactorial
ENSG00000182899	Diamond-Blackfan anemia 5, 612528 (3), Autosomal dominant
ENSG00000182923	?Seckel syndrome 6, 614728 (3), Autosomal recessive
ENSG00000182944	Ewing sarcoma, 612219 (3); Neuroepithelioma, 612219 (3)
ENSG00000183010	Cutis laxa, autosomal recessive, type IIB, 612940 (3), Autosomal recessive; Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
ENSG00000183044	GABA-transaminase deficiency, 613163 (3), Autosomal recessive
ENSG00000183072	Atrial septal defect 7, with or without AV conduction defects, 108900 (3), Autosomal dominant; Conotruncal heart malformations, variable, 217095 (3); Hypoplastic left heart syndrome 2, 614435 (3), Autosomal dominant; Hypothyroidism, congenital nongoitrous, 5, 225250 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant; Ventricular septal defect 3, 614432 (3), Autosomal dominant
ENSG00000183091	Nemaline myopathy 2, autosomal recessive, 256030 (3), Autosomal recessive
ENSG00000183098	Omodysplasia 1, 258315 (3), Autosomal recessive
ENSG00000183161	Fanconi anemia, complementation group F, 603467 (3)
ENSG00000183196	Macular corneal dystrophy, 217800 (3), Autosomal recessive
ENSG00000183230	Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3), Autosomal dominant
ENSG00000183258	{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871 (3), Autosomal dominant
ENSG00000183287	Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3), Autosomal recessive
ENSG00000183337	Microphthalmia, syndromic 2, 300166 (3), X-linked dominant
ENSG00000183421	CHAND syndrome, 214350 (3), Autosomal recessive; Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3), Autosomal recessive
ENSG00000183423	Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3), Autosomal recessive
ENSG00000183454	Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3), Autosomal dominant
ENSG00000183513	?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500 (3), Autosomal recessive
ENSG00000183597	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3), Autosomal recessive
ENSG00000183605	Combined oxidative phosphorylation deficiency 18, 615578 (3), Autosomal recessive
ENSG00000183638	Occult macular dystrophy, 613587 (3), Autosomal dominant
ENSG00000183691	Brachydactyly, type B2, 611377 (3), Autosomal dominant; Multiple synostoses syndrome 1, 186500 (3), Autosomal dominant; Stapes ankylosis with broad thumbs and toes, 184460 (3), Autosomal dominant; Symphalangism, proximal, 1A, 185800 (3), Autosomal dominant; Tarsal-carpal coalition syndrome, 186570 (3), Autosomal dominant
ENSG00000183715	{Ovarian cancer, somatic}, 167000 (3)
ENSG00000183733	Premature ovarian failure 6, 612310 (3), Autosomal dominant
ENSG00000183735	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, 617900 (3), Autosomal dominant; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3), Autosomal dominant
ENSG00000183762	Ectodermal dysplasia 13, hair/tooth type, 617392 (3), Autosomal recessive
ENSG00000183763	Seckel syndrome 9, 616777 (3), Autosomal recessive
ENSG00000183765	{Breast and colorectal cancer, susceptibility to} (3); {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant; Li-Fraumeni syndrome, 609265 (3); Osteosarcoma, somatic, 259500 (3); {Prostate cancer, familial, susceptibility to}, 176807 (3), Autosomal dominant
ENSG00000183770	Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3), Autosomal dominant; Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3), Autosomal dominant; Premature ovarian failure 3, 608996 (3), Autosomal dominant
ENSG00000183785	Cortical dysplasia, complex, with other brain malformations 8, 613180 (3), Autosomal recessive
ENSG00000183873	Atrial fibrillation, familial, 10, 614022 (3), Autosomal dominant; Brugada syndrome 1, 601144 (3), Autosomal dominant; Cardiomyopathy, dilated, 1E, 601154 (3), Autosomal dominant; Heart block, nonprogressive, 113900 (3), Autosomal dominant; Heart block, progressive, type IA, 113900 (3), Autosomal dominant; Long QT syndrome-3, 603830 (3), Autosomal dominant; Sick sinus syndrome 1, 608567 (3), Autosomal recessive; {Sudden infant death syndrome, susceptibility to}, 272120 (3), Autosomal recessive; Ventricular fibrillation, familial, 1, 603829 (3)
ENSG00000183918	Lymphoproliferative syndrome, X-linked, 1, 308240 (3), X-linked recessive
ENSG00000184009	Baraitser-Winter syndrome 2, 614583 (3), Autosomal dominant; Deafness, autosomal dominant 20/26, 604717 (3), Autosomal dominant
ENSG00000184014	Epileptic encephalopathy, early infantile, 49, 617281 (3), Autosomal recessive
ENSG00000184047	Deafness, autosomal dominant 64, 614152 (3), Autosomal dominant
ENSG00000184056	Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3), Autosomal recessive
ENSG00000184058	Conotruncal anomaly face syndrome, 217095 (3); DiGeorge syndrome, 188400 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant; Velocardiofacial syndrome, 192430 (3), Autosomal dominant
ENSG00000184144	?Epilepsy, myoclonic, familial adult, 5, 615400 (3), Autosomal recessive
ENSG00000184154	Deafness, autosomal recessive 63, 611451 (3), Autosomal recessive
ENSG00000184156	Seizures, benign neonatal, 2, 121201 (3), Autosomal dominant
ENSG00000184160	{Congestive heart failure and beta-blocker response, modifier of} (3)
ENSG00000184254	Microphthalmia, isolated 8, 615113 (3), Autosomal recessive
ENSG00000184292	Corneal dystrophy, gelatinous drop-like, 204870 (3), Autosomal recessive
ENSG00000184302	Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3), Autosomal recessive
ENSG00000184304	Congenital heart defects and ectodermal dysplasia, 617364 (3), Autosomal dominant
ENSG00000184344	Klippel-Feil syndrome 3, autosomal dominant, 613702 (3); Microphthalmia with coloboma 6, 613703 (3), Autosomal dominant; Microphthalmia, isolated 7, 613704 (3), Autosomal dominant
ENSG00000184374	3MC syndrome 3, 248340 (3), Autosomal recessive
ENSG00000184381	Infantile neuroaxonal dystrophy 1, 256600 (3), Autosomal recessive; Neurodegeneration with brain iron accumulation 2B, 610217 (3), Autosomal recessive; Parkinson disease 14, autosomal recessive, 612953 (3), Autosomal recessive
ENSG00000184384	Mucoepidermoid salivary gland carcinoma (3)
ENSG00000184432	?Microcephaly 19, primary, autosomal recessive, 617800 (3), Autosomal recessive
ENSG00000184470	?Glucocorticoid deficiency 5, 617825 (3), Autosomal recessive
ENSG00000184500	Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3), Autosomal dominant; Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3), Autosomal recessive
ENSG00000184564	Deafness and myopia, 221200 (3), Autosomal recessive
ENSG00000184584	STING-associated vasculopathy, infantile-onset, 615934 (3), Autosomal dominant
ENSG00000184634	Lujan-Fryns syndrome, 309520 (3), X-linked recessive; Ohdo syndrome, X-linked, 300895 (3), X-linked recessive; Opitz-Kaveggia syndrome, 305450 (3), X-linked recessive
ENSG00000184640	Amyotrophy, hereditary neuralgic, 162100 (3), Autosomal dominant; Leukemia, acute myeloid, therapy-related (1); Ovarian carcinoma (1)
ENSG00000184675	Osteopathia striata with cranial sclerosis, 300373 (3), X-linked dominant
ENSG00000184743	Neuropathy, hereditary sensory, type IF, 615632 (3), Autosomal dominant
ENSG00000184752	Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3), Autosomal recessive, Mitochondrial
ENSG00000184895	46XX sex reversal 1, 400045 (3); 46XY sex reversal 1, 400044 (3)
ENSG00000184908	Bartter syndrome, type 3, 607364 (3), Autosomal recessive; Bartter syndrome, type 4b, digenic, 613090 (3), Digenic recessive
ENSG00000184937	Denys-Drash syndrome, 194080 (3), Autosomal dominant, Somatic mutation; Frasier syndrome, 136680 (3), Autosomal dominant, Somatic mutation; Meacham syndrome, 608978 (3); Mesothelioma, somatic, 156240 (3); Nephrotic syndrome, type 4, 256370 (3), Autosomal dominant; Wilms tumor, type 1, 194070 (3), Autosomal dominant, Somatic mutation
ENSG00000184979	Pseudo-TORCH syndrome 2, 617397 (3), Autosomal recessive
ENSG00000184983	Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000185000	?Diarrhea 7, 615863 (3), Autosomal recessive
ENSG00000185002	Mitchell-Riley syndrome, 615710 (3), Autosomal recessive
ENSG00000185008	Vesicoureteral reflux 2, 610878 (3)
ENSG00000185010	Hemophilia A, 306700 (3), X-linked recessive
ENSG00000185024	Cerebellofaciodental syndrome, 616202 (3), Autosomal recessive
ENSG00000185100	Myopathy, distal, 5, 617030 (3), Autosomal recessive
ENSG00000185115	Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 (3), Autosomal recessive
ENSG00000185129	Mental retardation, autosomal dominant 31, 616158 (3), Autosomal dominant
ENSG00000185231	Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3), Autosomal recessive
ENSG00000185236	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 (3), Autosomal dominant
ENSG00000185245	Bernard-Soulier syndrome, type A1 (recessive), 231200 (3), Autosomal recessive; Bernard-Soulier syndrome, type A2 (dominant), 153670 (3), Autosomal dominant; {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3), Autosomal recessive; von Willebrand disease, platelet-type, 177820 (3), Autosomal dominant
ENSG00000185303	Pulmonary fibrosis, idiopathic, 178500 (3), Autosomal dominant
ENSG00000185313	Episodic pain syndrome, familial, 2, 615551 (3), Autosomal dominant
ENSG00000185324	Al Kaissi syndrome, 617694 (3), Autosomal recessive
ENSG00000185339	Transcobalamin II deficiency, 275350 (3), Autosomal recessive
ENSG00000185344	Cutis laxa, autosomal recessive, type IIA, 219200 (3), Autosomal recessive; Wrinkly skin syndrome, 278250 (3), Autosomal recessive
ENSG00000185345	Adenocarcinoma of lung, somatic, 211980 (3); Adenocarcinoma, ovarian, somatic, 167000 (3); {Leprosy, susceptibility to}, 607572 (3); Parkinson disease, juvenile, type 2, 600116 (3), Autosomal recessive
ENSG00000185379	{Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3)
ENSG00000185479	Pachyonychia congenita 4, 615728 (3)
ENSG00000185482	Myopathy, congenital, Baily-Bloch, 255995 (3), Autosomal recessive
ENSG00000185483	?Deafness, autosomal recessive 108, 617654 (3), Autosomal recessive
ENSG00000185499	Medullary cystic kidney disease 1, 174000 (3), Autosomal dominant
ENSG00000185507	?Immunodeficiency 39, 616345 (3), Autosomal recessive
ENSG00000185527	Retinitis pigmentosa 57, 613582 (3), Autosomal recessive
ENSG00000185532	Aortic aneurysm, familial thoracic 8, 615436 (3), Autosomal dominant
ENSG00000185551	Congenital heart defects, multiple types, 4, 615779 (3), Autosomal dominant
ENSG00000185624	Cole-Carpenter syndrome 1, 112240 (3), Autosomal dominant
ENSG00000185630	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 (3), Autosomal dominant
ENSG00000185760	Mental retardation, autosomal dominant 46, 617601 (3), Autosomal dominant
ENSG00000185803	Brown-Vialetto-Van Laere syndrome 2, 614707 (3), Autosomal recessive
ENSG00000185808	?Epileptic encephalopathy, early infantile, 55, 617599 (3), Autosomal recessive
ENSG00000185811	Immunodeficiency, common variable, 13, 616873 (3), Autosomal dominant
ENSG00000185818	?N-acetylaspartate deficiency, 614063 (3), Autosomal recessive
ENSG00000185825	Deafness, dystonia, and cerebral hypomyelination, 300475 (3), X-linked recessive
ENSG00000185900	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3), Autosomal recessive; ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 (3), Autosomal recessive
ENSG00000185909	{Hodgkin lymphoma, susceptibility to}, 236000 (3), Autosomal recessive
ENSG00000185920	Basal cell carcinoma, somatic, 605462 (3); Basal cell nevus syndrome, 109400 (3), Autosomal dominant; Holoprosencephaly 7, 610828 (3), Autosomal dominant
ENSG00000185950	{Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant
ENSG00000185960	Langer mesomelic dysplasia, 249700 (3), Autosomal recessive; Leri-Weill dyschondrosteosis, 127300 (3), Autosomal dominant; Short stature, idiopathic familial, 300582 (3),Langer mesomelic dysplasia, 249700 (3), Autosomal recessive; Leri-Weill dyschondrosteosis, 127300 (3), Autosomal dominant; Short stature, idiopathic familial, 300582 (3)
ENSG00000185963	Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 (3), Autosomal dominant
ENSG00000185973	{Autism, susceptibility to, X-linked 6}, 300872 (3), X-linked recessive
ENSG00000185974	Oguchi disease-2, 613411 (3)
ENSG00000186010	?Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial; {Thyroid carcinoma, Hurthle cell}, 607464 (3)
ENSG00000186051	Leukemia, T-cell acute lymphocytic, somatic, 613065 (3)
ENSG00000186073	Dyserythropoietic anemia, congenital, type Ib, 615631 (3), Autosomal recessive
ENSG00000186081	Dowling-Degos disease 1, 179850 (3), Autosomal dominant; Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3), Autosomal dominant; Epidermolysis bullosa simplex, Koebner type, 131900 (3), Autosomal dominant; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3), Autosomal dominant; Epidermolysis bullosa simplex, recessive 1, 601001 (3), Autosomal recessive; Epidermolysis bullosa simplex-MCR, 609352 (3); Epidermolysis bullosa simplex-MP, 131960 (3), Autosomal dominant
ENSG00000186104	Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3), Autosomal recessive
ENSG00000186111	Lethal congenital contractural syndrome 3, 611369 (3), Autosomal recessive
ENSG00000186153	Epileptic encephalopathy, early infantile, 28, 616211 (3), Autosomal recessive; Esophageal squamous cell carcinoma, somatic, 133239 (3); Spinocerebellar ataxia, autosomal recessive 12, 614322 (3), Autosomal recessive
ENSG00000186184	Treacher Collins syndrome 2, 613717 (3), Autosomal recessive, Autosomal dominant
ENSG00000186188	{Obesity, susceptibility to}, 607514 (3)
ENSG00000186197	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3), Autosomal dominant; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3), Autosomal recessive
ENSG00000186326	Bradyopsia, 608415 (3)
ENSG00000186335	Hyperglycinuria, 138500 (3), Autosomal dominant; Iminoglycinuria, digenic, 242600 (3), Autosomal recessive, Digenic recessive
ENSG00000186340	{Lumbar disc herniation, susceptibility to}, 603932 (3)
ENSG00000186395	Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive, Autosomal dominant; Ichthyosis with confetti, 609165 (3), Autosomal dominant; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3), Autosomal dominant
ENSG00000186417	Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive
ENSG00000186439	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3), Autosomal recessive
ENSG00000186442	Meesmann corneal dystrophy, 122100 (3), Autosomal dominant
ENSG00000186468	Brachycephaly, trichomegaly, and developmental delay, 617412 (3), Autosomal dominant
ENSG00000186472	?Pontocerebellar hypoplasia, type 3, 608027 (3), Autosomal recessive
ENSG00000186487	Mental retardation, autosomal dominant 39, 616521 (3), Autosomal dominant
ENSG00000186510	Bartter syndrome, type 4b, digenic, 613090 (3), Digenic recessive
ENSG00000186575	Meningioma, NF2-related, somatic, 607174 (3); Neurofibromatosis, type 2, 101000 (3), Autosomal dominant; Schwannomatosis, somatic, 162091 (3)
ENSG00000186687	Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive
ENSG00000186716	Leukemia, acute lymphocytic, somatic, 613065 (3); Leukemia, chronic myeloid, somatic, 608232 (3)
ENSG00000186765	Retinitis pigmentosa 30, 607921 (3)
ENSG00000186790	Anterior segment dysgenesis 2, multiple subtypes, 610256 (3), Autosomal recessive; {Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3), Autosomal dominant; Cataract 34, multiple types, 612968 (3)
ENSG00000186795	{Migraine, with or without aura, susceptibility to, 13}, 613656 (3)
ENSG00000186827	?Immunodeficiency 16, 615593 (3), Autosomal recessive
ENSG00000186832	Pachyonychia congenita 1, 167200 (3), Autosomal dominant; Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3), Autosomal dominant
ENSG00000186847	Dermatopathia pigmentosa reticularis, 125595 (3), Autosomal dominant; Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3), Autosomal dominant; Epidermolysis bullosa simplex, Koebner type, 131900 (3), Autosomal dominant; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3), Autosomal dominant; Epidermolysis bullosa simplex, recessive 1, 601001 (3), Autosomal recessive; Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3), Autosomal dominant
ENSG00000186862	Deafness, autosomal recessive 57, 618003 (3), Autosomal recessive; {Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3), Autosomal recessive; Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3), Autosomal recessive
ENSG00000186868	Dementia, frontotemporal, with or without parkinsonism, 600274 (3), Autosomal dominant; {Parkinson disease, susceptibility to}, 168600 (3), Isolated cases, Multifactorial; Pick disease, 172700 (3), Autosomal dominant, Isolated cases; Supranuclear palsy, progressive, 601104 (3), Autosomal dominant; Supranuclear palsy, progressive atypical, 260540 (3), Autosomal recessive
ENSG00000186895	Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3), Autosomal recessive
ENSG00000186951	{Hyperapobetalipoproteinemia, susceptibility to} (3)
ENSG00000187010	[Rh-negative blood type] (3)
ENSG00000187017	Deafness, autosomal recessive 36, 609006 (3), Autosomal recessive; Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)
ENSG00000187045	Iron-refractory iron deficiency anemia, 206200 (3), Autosomal recessive
ENSG00000187049	Joubert syndrome 2, 608091 (3), Autosomal recessive; Meckel syndrome 2, 603194 (3), Autosomal recessive
ENSG00000187079	Sveinsson chorioretinal atrophy, 108985 (3), Autosomal dominant
ENSG00000187091	Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3), Autosomal recessive, Autosomal dominant
ENSG00000187098	COMMAD syndrome, 617306 (3), Autosomal recessive; {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 (3); Tietz albinism-deafness syndrome, 103500 (3), Autosomal dominant; Waardenburg syndrome, type 2A, 193510 (3), Autosomal dominant; Waardenburg syndrome/ocular albinism, digenic, 103470 (3), Autosomal dominant
ENSG00000187140	{Autoimmune disease, susceptibility to, 1}, 607836 (3), Autosomal dominant
ENSG00000187240	Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3), Autosomal recessive, Digenic recessive
ENSG00000187242	Meesmann corneal dystrophy, 122100 (3), Autosomal dominant
ENSG00000187244	[Blood group, Auberger system], 111200 (3); [Blood group, Lutheran null], 247420 (3), Autosomal recessive; [Blood group, Lutheran system], 111200 (3)
ENSG00000187258	{Asthma, susceptibility to, 2}, 608584 (3)
ENSG00000187266	[Erythrocytosis, familial, 1], 133100 (3), Autosomal dominant
ENSG00000187288	?Lipodystrophy, familial partial, type 5, 615238 (3), Autosomal recessive
ENSG00000187323	Colorectal cancer, somatic, 114500 (3); Esophageal carcinoma, somatic, 133239 (3); Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3), Autosomal recessive; Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3), Autosomal dominant
ENSG00000187391	Nephrotic syndrome, type 15, 617609 (3), Autosomal recessive
ENSG00000187486	Diabetes mellitus, transient neonatal, 3, 610582 (3), Autosomal dominant; {Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant; Diabetes, permanent neonatal, with or without neurologic features, 606176 (3), Autosomal recessive, Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3), Autosomal recessive; Maturity-onset diabetes of the young, type 13, 616329 (3), Autosomal dominant
ENSG00000187498	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3), Autosomal dominant; Brain small vessel disease with or without ocular anomalies, 607595 (3), Autosomal dominant; {Hemorrhage, intracerebral, susceptibility to}, 614519 (3); Porencephaly 1, 175780 (3), Autosomal dominant; ?Retinal arteries, tortuosity of, 180000 (3), Autosomal dominant; Schizencephaly, 269160 (3)
ENSG00000187535	Retinitis pigmentosa 80, 617781 (3), Autosomal recessive; Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3), Autosomal recessive
ENSG00000187553	Focal facial dermal dysplasia 4, 614974 (3), Autosomal recessive
ENSG00000187554	{Legionnaire disease, susceptibility to}, 608556 (3); {Melioidosis, susceptibility to}, 615557 (3); {Systemic lupus erythematosus, resistance to}, 601744 (3); {Systemic lupus erythematosus, susceptibility to, 1}, 601744 (3)
ENSG00000187566	Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3), Autosomal recessive
ENSG00000187608	Immunodeficiency 38, 616126 (3), Autosomal recessive
ENSG00000187616	Carey-Fineman-Ziter syndrome, 254940 (3), Autosomal recessive
ENSG00000187676	Peters-plus syndrome, 261540 (3), Autosomal recessive
ENSG00000187678	Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3), Autosomal dominant
ENSG00000187689	?Amelogenesis imperfecta, type IIIB, 617607 (3), Autosomal dominant
ENSG00000187714	Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3), Autosomal recessive
ENSG00000187726	Ciliary dyskinesia, primary, 34, 617091 (3), Autosomal recessive
ENSG00000187730	{Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, 10}, 613060 (3), Autosomal dominant; {Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3), Autosomal dominant
ENSG00000187736	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)
ENSG00000187741	Fanconi anemia, complementation group A, 227650 (3), Autosomal recessive
ENSG00000187742	Thyroid hormone metabolism, abnormal, 609698 (3)
ENSG00000187790	?Premature ovarian failure 15, 618096 (3), Autosomal recessive; Spermatogenic failure 28, 618086 (3), Autosomal recessive
ENSG00000187796	Candidiasis, familial, 2, autosomal recessive, 212050 (3), Autosomal recessive
ENSG00000187848	Deafness, autosomal dominant 41, 608224 (3), Autosomal dominant
ENSG00000188021	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 (3), X-linked dominant
ENSG00000188037	Myotonia congenita, dominant, 160800 (3), Autosomal dominant; Myotonia congenita, recessive, 255700 (3), Autosomal recessive; Myotonia levior, recessive (3)
ENSG00000188107	Retinitis pigmentosa 25, 602772 (3), Autosomal recessive
ENSG00000188153	Alport syndrome, 301050 (3), X-linked dominant
ENSG00000188157	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3), Autosomal recessive
ENSG00000188158	Cataract 40, X-linked, 302200 (3), X-linked; Nance-Horan syndrome, 302350 (3), X-linked dominant
ENSG00000188162	Deafness, autosomal recessive 18B, 614945 (3), Autosomal recessive
ENSG00000188229	Leber congenital amaurosis with early-onset deafness, 617879 (3), Autosomal dominant
ENSG00000188257	{Colorectal cancer}, 114500 (3), Autosomal dominant
ENSG00000188372	Oocyte maturation defect 3, 617712 (3), Autosomal dominant
ENSG00000188389	{Multiple sclerosis, disease progression, modifier of}, 126200 (3), Multifactorial; {Systemic lupus erythematosus, susceptibility to, 2}, 605218 (3)
ENSG00000188419	Choroideremia, 303100 (3), X-linked dominant
ENSG00000188452	Retinitis pigmentosa 26, 608380 (3)
ENSG00000188467	Albinism, oculocutaneous, type VI, 113750 (3), Autosomal recessive; [Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3), Autosomal recessive
ENSG00000188517	Fibrosis of extraocular muscles, congenital, 5, 616219 (3), Autosomal recessive
ENSG00000188536	Erythrocytosis 7, 617981 (3); Heinz body anemia, 140700 (3), Autosomal dominant; Hemoglobin H disease, deletional and nondeletional, 613978 (3); Thalassemia, alpha-, 604131 (3)
ENSG00000188603	Ceroid lipofuscinosis, neuronal, 3, 204200 (3), Autosomal recessive
ENSG00000188613	Spermatogenic failure 12, 615413 (3), Autosomal dominant
ENSG00000188641	Dihydropyrimidine dehydrogenase deficiency, 274270 (3), Autosomal recessive; 5-fluorouracil toxicity, 274270 (3), Autosomal recessive
ENSG00000188672	[Blood group, Rhesus] (3); Rh-null disease, amorph type, 617970 (3)
ENSG00000188690	Porphyria, congenital erythropoietic, 263700 (3), Autosomal recessive
ENSG00000188706	Mental retardation, X-linked syndromic, Raymond type, 300799 (3)
ENSG00000188738	Spermatogenic failure 34, 618153 (3)
ENSG00000188778	{Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial
ENSG00000188827	Fanconi anemia, complementation group P, 613951 (3), Autosomal recessive
ENSG00000188906	{Parkinson disease 8}, 607060 (3), Autosomal dominant
ENSG00000188910	Deafness, autosomal dominant 2B, 612644 (3), Autosomal dominant; Deafness, autosomal dominant, with peripheral neuropathy (3); Deafness, autosomal recessive (3); Deafness, digenic, GJB2/GJB3, 220290 (3), Autosomal recessive; Erythrokeratodermia variabilis et progressiva 1, 133200 (3), Autosomal recessive, Autosomal dominant
ENSG00000188937	Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3), X-linked recessive
ENSG00000188992	{Hypertriglyceridemia, susceptibility to}, 145750 (3), Autosomal dominant
ENSG00000189056	{Epilepsy, familial temporal lobe, 7}, 616436 (3), Autosomal dominant; Lissencephaly 2 (Norman-Roberts type), 257320 (3), Autosomal recessive
ENSG00000189057	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 (3), Autosomal dominant
ENSG00000189067	Charcot-Marie-Tooth disease, type 1C, 601098 (3), Autosomal dominant
ENSG00000189079	Coffin-Siris syndrome 6, 617808 (3), Autosomal dominant
ENSG00000189114	Hermansky-Pudlak syndrome 8, 614077 (3), Autosomal recessive
ENSG00000189221	{Antisocial behavior}, 300615 (3), X-linked recessive; Brunner syndrome, 300615 (3), X-linked recessive
ENSG00000189241	Sudden infant death with dysgenesis of the testes syndrome, 608800 (3), Autosomal recessive
ENSG00000189433	Erythrokeratodermia variabilis et progressiva 2, 617524 (3), Autosomal dominant
ENSG00000196091	Arthrogryposis, distal, type 1B, 614335 (3), Autosomal dominant; Lethal congenital contracture syndrome 4, 614915 (3), Autosomal recessive
ENSG00000196092	{Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
ENSG00000196116	Cataract 36, 613887 (3), Autosomal recessive
ENSG00000196126	{Multiple sclerosis, susceptibility to, 1}, 126200 (3), Multifactorial; {Sarcoidosis, susceptibility to, 1}, 181000 (3), Autosomal dominant
ENSG00000196136	Alpha-1-antichymotrypsin deficiency (3); Cerebrovascular disease, occlusive (3)
ENSG00000196159	Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3), Autosomal recessive; Van Maldergem syndrome 2, 615546 (3), Autosomal recessive
ENSG00000196177	2-methylbutyrylglycinuria, 610006 (3), Autosomal recessive
ENSG00000196189	Cone-rod dystrophy 10, 610283 (3), Autosomal recessive; Retinitis pigmentosa 35, 610282 (3), Autosomal recessive, Autosomal dominant
ENSG00000196218	Central core disease, 117000 (3), Autosomal recessive, Autosomal dominant; King-Denborough syndrome, 145600 (3), Autosomal dominant; {Malignant hyperthermia susceptibility 1}, 145600 (3), Autosomal dominant; Minicore myopathy with external ophthalmoplegia, 255320 (3), Autosomal recessive; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3), Autosomal recessive, Autosomal dominant
ENSG00000196230	Cortical dysplasia, complex, with other brain malformations 6, 615771 (3), Autosomal dominant; Symmetric circumferential skin creases, congenital, 1, 156610 (3), Autosomal dominant
ENSG00000196236	Nephronophthisis-like nephropathy 1, 613159 (3), Autosomal recessive
ENSG00000196296	Brody myopathy, 601003 (3), Autosomal recessive
ENSG00000196305	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive
ENSG00000196338	{Asperger syndrome susceptibility, X-linked 1}, 300494 (3), Isolated cases, X-linked, Multifactorial; {Autism susceptibility, X-linked 1}, 300425 (3), Isolated cases, X-linked, Multifactorial
ENSG00000196352	[Blood group Cromer], 613793 (3), Autosomal recessive; Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive
ENSG00000196365	CODAS syndrome, 600373 (3), Autosomal recessive
ENSG00000196396	{Insulin resistance, susceptibility to}, 125853 (3), Autosomal dominant
ENSG00000196411	{Hydrops fetalis, nonimmune, and/or atrial septal defect}, 617300 (3), Autosomal dominant
ENSG00000196431	Cataract 23, 610425 (3)
ENSG00000196459	Spondyloepiphyseal dysplasia tarda, 313400 (3), X-linked recessive
ENSG00000196468	Metacarpal 4-5 fusion, 309630 (3), X-linked recessive
ENSG00000196511	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3), Autosomal recessive
ENSG00000196517	Glycine encephalopathy with normal serum glycine, 617301 (3), Autosomal recessive
ENSG00000196549	Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3), Autosomal recessive, Autosomal dominant; ?Spinocerebellar ataxia 43, 617018 (3), Autosomal dominant
ENSG00000196557	{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3); {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3); Hyperaldosteronism, familial, type IV, 617027 (3), Autosomal dominant
ENSG00000196565	Cyanosis, transient neonatal, 613977 (3), Autosomal dominant; Fetal hemoglobin quantitative trait locus 1, 141749 (3), Autosomal dominant
ENSG00000196569	Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3), Autosomal recessive
ENSG00000196584	?Fanconi anemia, complementation group U, 617247 (3), Autosomal recessive
ENSG00000196586	Deafness, autosomal dominant 22, 606346 (3), Autosomal dominant; Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3), Autosomal dominant; Deafness, autosomal recessive 37, 607821 (3), Autosomal recessive
ENSG00000196588	Megakaryoblastic leukemia, acute (3)
ENSG00000196611	COPD, rate of decline of lung function in, 606963 (3); {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3), Autosomal recessive
ENSG00000196616	{Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3), Multifactorial; {Alcohol dependence, protection against}, 103780 (3), Multifactorial
ENSG00000196628	Corneal dystrophy, Fuchs endothelial, 3, 613267 (3), Autosomal dominant; Pitt-Hopkins syndrome, 610954 (3), Autosomal dominant
ENSG00000196660	Hypermanganesemia with dystonia 1, 613280 (3), Autosomal recessive
ENSG00000196663	Spastic paraplegia 49, autosomal recessive, 615031 (3), Autosomal recessive
ENSG00000196712	Leukemia, juvenile myelomonocytic, 607785 (3), Autosomal dominant, Somatic mutation; Neurofibromatosis, familial spinal, 162210 (3), Autosomal dominant; Neurofibromatosis, type 1, 162200 (3), Autosomal dominant; Neurofibromatosis-Noonan syndrome, 601321 (3), Autosomal dominant; Watson syndrome, 193520 (3), Autosomal dominant
ENSG00000196735	{Celiac disease, susceptibility to}, 212750 (3), Autosomal recessive, Multifactorial
ENSG00000196739	Steel syndrome, 615155 (3), Autosomal recessive
ENSG00000196743	GM2-gangliosidosis, AB variant, 272750 (3), Autosomal recessive
ENSG00000196767	Deafness, X-linked 2, 304400 (3), X-linked recessive
ENSG00000196811	Escobar syndrome, 265000 (3), Autosomal recessive; Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive
ENSG00000196839	Adenosine deaminase deficiency, partial, 102700 (3), Autosomal recessive, Somatic mosaicism; Severe combined immunodeficiency due to ADA deficiency, 102700 (3), Autosomal recessive, Somatic mosaicism
ENSG00000196876	?Cognitive impairment with or without cerebellar ataxia, 614306 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 13, 614558 (3), Autosomal dominant; Seizures, benign familial infantile, 5, 617080 (3), Autosomal dominant
ENSG00000196878	Amelogenesis imperfecta, type IA, 104530 (3), Autosomal dominant; Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive
ENSG00000196924	Cardiac valvular dysplasia, X-linked, 314400 (3), X-linked recessive; Congenital short bowel syndrome, 300048 (3), X-linked recessive; ?FG syndrome 2, 300321 (3), X-linked; Frontometaphyseal dysplasia 1, 305620 (3), X-linked recessive; Heterotopia, periventricular, 300049 (3), X-linked dominant; Intestinal pseudoobstruction, neuronal, 300048 (3), X-linked recessive; Melnick-Needles syndrome, 309350 (3), X-linked dominant; Otopalatodigital syndrome, type I, 311300 (3), X-linked dominant; Otopalatodigital syndrome, type II, 304120 (3), X-linked dominant; Terminal osseous dysplasia, 300244 (3), X-linked dominant
ENSG00000196935	{Thyroid cancer, nonmedullary, 2}, 188470 (3), Autosomal dominant
ENSG00000196976	Galloway-Mowat syndrome 2, X-linked, 301006 (3), X-linked recessive
ENSG00000196998	Neurodegeneration with brain iron accumulation 5, 300894 (3), X-linked dominant
ENSG00000197081	Hepatocellular carcinoma, somatic, 114550 (3)
ENSG00000197102	Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3), Autosomal dominant; Mental retardation, autosomal dominant 13, 614563 (3), Autosomal dominant; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3), Autosomal dominant
ENSG00000197106	Mental retardation, autosomal recessive 48, 616269 (3), Autosomal recessive
ENSG00000197110	{Hepatitis C virus infection, response to therapy of}, 609532 (3)
ENSG00000197121	Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive
ENSG00000197122	Colon cancer, advanced, somatic, 114500 (3); ?Thrombocytopenia 6, 616937 (3), Autosomal dominant
ENSG00000197170	Stankiewicz-Isidor syndrome, 617516 (3), Autosomal dominant
ENSG00000197208	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
ENSG00000197249	Emphysema due to AAT deficiency, 613490 (3), Autosomal recessive; Emphysema-cirrhosis, due to AAT deficiency, 613490 (3), Autosomal recessive; Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3), Autosomal recessive; {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1)
ENSG00000197256	Nephrotic syndrome, type 16, 617783 (3), Autosomal recessive; Palmoplantar keratoderma and woolly hair, 616099 (3), Autosomal recessive
ENSG00000197265	Trichothiodystrophy 6, nonphotosensitive, 616943 (3), Autosomal recessive
ENSG00000197275	Colon cancer, somatic, 114500 (3); Lymphoma, non-Hodgkin, somatic, 605027 (3)
ENSG00000197283	Mental retardation, autosomal dominant 5, 612621 (3), Autosomal dominant
ENSG00000197299	Bloom syndrome, 210900 (3), Autosomal recessive
ENSG00000197375	Carnitine deficiency, systemic primary, 212140 (3), Autosomal recessive
ENSG00000197386	Huntington disease, 143100 (3), Autosomal dominant; Lopes-Maciel-Rodan syndrome, 617435 (3), Autosomal recessive
ENSG00000197408	{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3); Efavirenz, poor metabolism of, 614546 (3)
ENSG00000197417	[Sedoheptulokinase deficiency], 617213 (3), Autosomal recessive
ENSG00000197467	Myasthenic syndrome, congenital, 19, 616720 (3), Autosomal recessive
ENSG00000197496	Arterial tortuosity syndrome, 208050 (3), Autosomal recessive
ENSG00000197535	Griscelli syndrome, type 1, 214450 (3), Autosomal recessive
ENSG00000197561	Neutropenia, cyclic, 162800 (3), Autosomal dominant; Neutropenia, severe congenital 1, autosomal dominant, 202700 (3), Autosomal dominant
ENSG00000197563	Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3), Autosomal recessive
ENSG00000197565	?Deafness, X-linked 6, 300914 (3), X-linked recessive
ENSG00000197579	Retinitis pigmentosa 31, 609923 (3)
ENSG00000197594	Arterial calcification, generalized, of infancy, 1, 208000 (3), Autosomal recessive; Cole disease, 615522 (3), Autosomal dominant; {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant; Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3), Autosomal recessive; {Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial
ENSG00000197601	Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 (3), Autosomal recessive
ENSG00000197603	Joubert syndrome 17, 614615 (3), Autosomal recessive; Orofaciodigital syndrome VI, 277170 (3), Autosomal recessive
ENSG00000197614	Aortic aneurysm, familial thoracic 9, 616166 (3), Autosomal dominant
ENSG00000197616	Atrial septal defect 3, 614089 (3); Cardiomyopathy, dilated, 1EE, 613252 (3); Cardiomyopathy, hypertrophic, 14, 613251 (3), Autosomal dominant; {Sick sinus syndrome 3}, 614090 (3)
ENSG00000197694	Epileptic encephalopathy, early infantile, 5, 613477 (3), Autosomal dominant
ENSG00000197728	Diamond-Blackfan anemia 10, 613309 (3), Autosomal dominant
ENSG00000197746	Combined SAP deficiency, 611721 (3), Autosomal recessive; Gaucher disease, atypical, 610539 (3); Krabbe disease, atypical, 611722 (3), Autosomal recessive; Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3), Autosomal recessive
ENSG00000197748	Spermatogenic failure 19, 617592 (3), Autosomal recessive
ENSG00000197753	Deafness, autosomal recessive 67, 610265 (3), Autosomal recessive
ENSG00000197766	Complement factor D deficiency, 613912 (3), Autosomal recessive
ENSG00000197780	Mental retardation, autosomal recessive 60, 617432 (3), Autosomal recessive
ENSG00000197785	Harel-Yoon syndrome, 617183 (3), Autosomal recessive, Autosomal dominant
ENSG00000197822	Pseudo-TORCH syndrome 1, 251290 (3), Autosomal recessive
ENSG00000197858	Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3), Autosomal recessive
ENSG00000197859	Geleophysic dysplasia 1, 231050 (3), Autosomal recessive
ENSG00000197888	{Bone mineral density QTL 12, osteoporosis}, 612560 (3)
ENSG00000197891	Hypouricemia, renal, 220150 (3), Autosomal recessive
ENSG00000197912	Spastic paraplegia 7, autosomal recessive, 607259 (3), Autosomal recessive, Autosomal dominant
ENSG00000197943	Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3), Autosomal dominant; Familial cold autoinflammatory syndrome 3, 614468 (3), Autosomal dominant
ENSG00000197969	Choreoacanthocytosis, 200150 (3), Autosomal recessive
ENSG00000197993	[Blood group, Kell], 110900 (3)
ENSG00000198001	IRAK4 deficiency, 607676 (3); Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3)
ENSG00000198003	Ciliary dyskinesia, primary, 30, 616037 (3), Autosomal recessive
ENSG00000198026	?Microcephaly 10, primary, autosomal recessive, 615095 (3), Autosomal recessive
ENSG00000198087	Glomerulosclerosis, focal segmental, 3, 607832 (3)
ENSG00000198130	3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3), Autosomal recessive
ENSG00000198171	Spondyloepimetaphyseal dysplasia, Shohat type, 602557 (3), Autosomal recessive
ENSG00000198198	Epileptic encephalopathy, early infantile, 18, 615476 (3), Autosomal recessive
ENSG00000198218	Ververi-Brady syndrome, 617982 (3), Autosomal dominant
ENSG00000198223	Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3)
ENSG00000198246	Histiocytosis-lymphadenopathy plus syndrome, 602782 (3), Autosomal recessive
ENSG00000198286	B-cell expansion with NFKB and T-cell anergy, 616452 (3), Autosomal dominant; Immunodeficiency 11A, 615206 (3), Autosomal recessive; Immunodeficiency 11B with atopic dermatitis, 617638 (3), Autosomal dominant
ENSG00000198331	Hydrolethalus syndrome, 236680 (3), Autosomal recessive
ENSG00000198336	?Atrial fibrillation, familial, 18, 617280 (3), Autosomal dominant
ENSG00000198363	Traboulsi syndrome, 601552 (3), Autosomal recessive
ENSG00000198380	Myasthenia, congenital, 12, with tubular aggregates, 610542 (3), Autosomal recessive
ENSG00000198400	Insensitivity to pain, congenital, with anhidrosis, 256800 (3), Autosomal recessive; Medullary thyroid carcinoma, familial, 155240 (3), Autosomal dominant
ENSG00000198467	Arthrogryposis multiplex congenita, distal, type 1, 108120 (3), Autosomal dominant; Arthrogryposis, distal, type 2B, 601680 (3), Autosomal dominant; CAP myopathy 2, 609285 (3), Autosomal dominant; Nemaline myopathy 4, autosomal dominant, 609285 (3), Autosomal dominant
ENSG00000198513	Neuropathy, hereditary sensory, type ID, 613708 (3), Autosomal dominant; Spastic paraplegia 3A, autosomal dominant, 182600 (3), Autosomal dominant
ENSG00000198515	Retinitis pigmentosa 49, 613756 (3)
ENSG00000198523	Cardiomyopathy, dilated, 1P, 609909 (3); Cardiomyopathy, hypertrophic, 18, 613874 (3), Autosomal dominant
ENSG00000198561	Blepharocheilodontic syndrome 2, 617681 (3), Autosomal dominant
ENSG00000198569	Hypophosphatemic rickets with hypercalciuria, 241530 (3), Autosomal recessive
ENSG00000198570	Leber congenital amaurosis 12, 610612 (3), Autosomal recessive
ENSG00000198589	Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3), Autosomal recessive
ENSG00000198610	{46XY sex reversal 8, modifier of}, 614279 (3), Autosomal recessive
ENSG00000198626	Arrhythmogenic right ventricular dysplasia 2, 600996 (3), Autosomal dominant; Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3), Autosomal dominant
ENSG00000198650	Tyrosinemia, type II, 276600 (3), Autosomal recessive
ENSG00000198668	Long QT syndrome 14, 616247 (3), Autosomal dominant; Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3), Autosomal dominant
ENSG00000198670	{Coronary artery disease, susceptibility to} (1); [LPA deficiency, congenital] (3)
ENSG00000198677	Trichohepatoenteric syndrome 1, 222470 (3), Autosomal recessive
ENSG00000198682	Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3), Autosomal recessive
ENSG00000198689	Mental retardation, X-linked syndromic, Christianson type, 300243 (3), X-linked dominant
ENSG00000198690	Interstitial nephritis, karyomegalic, 614817 (3), Autosomal recessive
ENSG00000198691	Cone-rod dystrophy 3, 604116 (3); Fundus flavimaculatus, 248200 (3), Autosomal recessive; {Macular degeneration, age-related, 2}, 153800 (3), Autosomal dominant; Retinal dystrophy, early-onset severe, 248200 (3), Autosomal recessive; Retinitis pigmentosa 19, 601718 (3), Autosomal recessive; Stargardt disease 1, 248200 (3), Autosomal recessive
ENSG00000198707	?Bardet-Biedl syndrome 14, 615991 (3), Autosomal recessive; Joubert syndrome 5, 610188 (3), Autosomal recessive; Leber congenital amaurosis 10, 611755 (3); Meckel syndrome 4, 611134 (3), Autosomal recessive; Senior-Loken syndrome 6, 610189 (3), Autosomal recessive
ENSG00000198732	Microphthalmia with limb anomalies, 206920 (3), Autosomal recessive
ENSG00000198734	{Budd-Chiari syndrome}, 600880 (3), Autosomal recessive; Factor V deficiency, 227400 (3), Autosomal recessive; {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3), Autosomal dominant; {Stroke, ischemic, susceptibility to}, 601367 (3), Multifactorial; Thrombophilia due to activated protein C resistance, 188055 (3), Autosomal dominant; {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3), Autosomal dominant
ENSG00000198793	Focal cortical dysplasia, type II, somatic, 607341 (3); Smith-Kingsmore syndrome, 616638 (3), Autosomal dominant
ENSG00000198799	Urofacial syndrome 2, 615112 (3), Autosomal recessive
ENSG00000198805	Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3), Autosomal recessive
ENSG00000198807	Tooth agenesis, selective, 3, 604625 (3), Autosomal dominant
ENSG00000198814	Glycerol kinase deficiency, 307030 (3), X-linked recessive
ENSG00000198821	?Immunodeficiency 25, 610163 (3), Autosomal recessive
ENSG00000198824	Mental retardation, autosomal dominant 40, 616579 (3), Autosomal dominant
ENSG00000198835	Leukodystrophy, hypomyelinating, 2, 608804 (3), Autosomal recessive; Lymphedema, hereditary, IC, 613480 (3), Autosomal dominant; Spastic paraplegia 44, autosomal recessive, 613206 (3), Autosomal recessive
ENSG00000198836	Behr syndrome, 210000 (3), Autosomal recessive; {Glaucoma, normal tension, susceptibility to}, 606657 (3); ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3); Optic atrophy 1, 165500 (3), Autosomal dominant; Optic atrophy plus syndrome, 125250 (3), Autosomal dominant
ENSG00000198848	Drug metabolism, altered, CES1-related, 618057 (3)
ENSG00000198851	Immunodeficiency 18, 615615 (3), Autosomal recessive; Immunodeficiency 18, SCID variant, 615615 (3), Autosomal recessive
ENSG00000198853	Mental retardation, autosomal recessive 61, 617773 (3), Autosomal recessive
ENSG00000198860	Pontocerebellar hypoplasia, type 2F, 617026 (3), Autosomal recessive
ENSG00000198900	DNA topoisomerase I, camptothecin-resistant (3)
ENSG00000198910	CRASH syndrome, 303350 (3), X-linked recessive; Corpus callosum, partial agenesis of, 304100 (3), X-linked recessive; Hydrocephalus due to aqueductal stenosis, 307000 (3), X-linked recessive; Hydrocephalus with Hirschsprung disease, 307000 (3), X-linked recessive; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3), X-linked recessive; MASA syndrome, 303350 (3), X-linked recessive
ENSG00000198920	?Orofaciodigital syndrome XV, 617127 (3), Autosomal recessive
ENSG00000198931	Adenine phosphoribosyltransferase deficiency, 614723 (3), Autosomal recessive
ENSG00000198947	Becker muscular dystrophy, 300376 (3), X-linked recessive; Cardiomyopathy, dilated, 3B, 302045 (3), X-linked; Duchenne muscular dystrophy, 310200 (3), X-linked recessive
ENSG00000198951	Kanzaki disease, 609242 (3), Autosomal recessive; Schindler disease, type I, 609241 (3), Autosomal recessive; Schindler disease, type III, 609241 (3), Autosomal recessive
ENSG00000198954	Goldberg-Shprintzen megacolon syndrome, 609460 (3), Autosomal recessive
ENSG00000199158	Deafness, autosomal dominant 50, 613074 (3), Autosomal dominant
ENSG00000200463	Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive
ENSG00000203485	Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3), Autosomal dominant; Glomerulosclerosis, focal segmental, 5, 613237 (3)
ENSG00000203618	Bernard-Soulier syndrome, type B, 231200 (3), Autosomal recessive; Giant platelet disorder, isolated, 231200 (3), Autosomal recessive
ENSG00000203667	Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial
ENSG00000203710	[Blood group, Knops system], 607486 (3); CR1 deficiency (1); {Malaria, severe, resistance to}, 611162 (3); {?SLE susceptibility} (1)
ENSG00000203747	Immunodeficiency 20, 615707 (3), Autosomal recessive
ENSG00000203782	Vohwinkel syndrome with ichthyosis, 604117 (3), Autosomal dominant
ENSG00000203859	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 (3), Autosomal recessive
ENSG00000203867	Cardiomyopathy, dilated, 1DD, 613172 (3), Autosomal dominant
ENSG00000203877	?Spondylocostal dysostosis 6, 616566 (3), Autosomal recessive
ENSG00000203879	Mental retardation, X-linked 41, 300849 (3), X-linked dominant
ENSG00000203883	Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3), Autosomal recessive; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940 (3), Autosomal dominant
ENSG00000203908	Hydatidiform mole, recurrent, 2, 614293 (3), Autosomal recessive
ENSG00000204020	Ichthyosis, congenital, autosomal recessive 8, 613943 (3), Autosomal recessive
ENSG00000204103	Duane retraction syndrome 3, 617041 (3), Autosomal dominant; Multicentric carpotarsal osteolysis syndrome, 166300 (3), Autosomal dominant
ENSG00000204104	Senior-Loken syndrome 9, 616629 (3), Autosomal recessive
ENSG00000204120	{Parkinson disease 11}, 607688 (3)
ENSG00000204217	Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3), Autosomal dominant; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 (3), Autosomal dominant; Pulmonary venoocclusive disease 1, 265450 (3), Autosomal dominant
ENSG00000204248	Deafness, autosomal dominant 13, 601868 (3), Autosomal dominant; Deafness, autosomal recessive 53, 609706 (3), Autosomal recessive; Fibrochondrogenesis 2, 614524 (3), Autosomal recessive, Autosomal dominant; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3), Autosomal dominant; Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3), Autosomal recessive
ENSG00000204262	Ehlers-Danlos syndrome, classic type, 2, 130010 (3), Autosomal dominant
ENSG00000204264	Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 (3), Autosomal recessive
ENSG00000204267	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3), Autosomal recessive
ENSG00000204290	{Sarcoidosis, susceptibility to, 2}, 612387 (3), Autosomal dominant
ENSG00000204311	Deafness, autosomal recessive 59, 610220 (3), Autosomal recessive
ENSG00000204351	Trichohepatoenteric syndrome 2, 614602 (3), Autosomal recessive
ENSG00000204370	Mitochondrial complex II deficiency, 252011 (3), Autosomal recessive; Paraganglioma and gastric stromal sarcoma, 606864 (3); Paragangliomas 1, with or without deafness, 168000 (3), Autosomal dominant; Pheochromocytoma, 171300 (3), Autosomal dominant
ENSG00000204385	?Deafness, autosomal dominant 72, 617606 (3), Autosomal dominant
ENSG00000204386	Sialidosis, type I, 256550 (3), Autosomal recessive; Sialidosis, type II, 256550 (3), Autosomal recessive
ENSG00000204394	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive
ENSG00000204403	{Sepsis, susceptibility to} (3)
ENSG00000204406	Mental retardation, autosomal dominant 1, 156200 (3), Autosomal dominant
ENSG00000204410	?Premature ovarian failure 13, 617442 (3), Autosomal recessive
ENSG00000204420	?Thrombocytopenia, anemia, and myelofibrosis, 617441 (3), Autosomal recessive
ENSG00000204475	{Malaria, mild, susceptibility to}, 609148 (3)
ENSG00000204498	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
ENSG00000204525	{HIV-1 viremia, susceptibility to}, 609423 (3); {Psoriasis susceptibility 1}, 177900 (3), Multifactorial
ENSG00000204539	Hypotrichosis 2, 146520 (3), Autosomal dominant; Peeling skin syndrome 1, 270300 (3), Autosomal recessive
ENSG00000204644	Diabetes mellitus, transient neonatal, 1, 601410 (3)
ENSG00000204655	?Narcolepsy 7, 614250 (3), Autosomal dominant
ENSG00000204701	[C3HEX, ability to smell], 615082 (3), Autosomal dominant
ENSG00000204815	Ciliary dyskinesia, primary, 35, 617092 (3), Autosomal recessive
ENSG00000204842	{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3), Autosomal dominant; {Parkinson disease, late-onset, susceptibility to}, 168600 (3), Isolated cases, Multifactorial; Spinocerebellar ataxia 2, 183090 (3), Autosomal dominant
ENSG00000204843	{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant; Neuropathy, distal hereditary motor, type VIIB, 607641 (3), Autosomal dominant; Perry syndrome, 168605 (3), Autosomal dominant
ENSG00000204852	Joubert syndrome 13, 614173 (3), Autosomal recessive
ENSG00000204897	Woolly hair, autosomal recessive 3, 616760 (3), Autosomal recessive
ENSG00000204922	?Mitochondrial complex III deficiency, nuclear type 9, 616111 (3), Autosomal recessive
ENSG00000204928	?Deafness, autosomal recessive 101, 615837 (3), Autosomal recessive
ENSG00000204983	Pancreatitis, hereditary, 167800 (3), Autosomal dominant; Trypsinogen deficiency, 614044 (1), Autosomal recessive
ENSG00000205084	Joubert syndrome 20, 614970 (3), Autosomal recessive; Meckel syndrome 11, 615397 (3), Autosomal recessive
ENSG00000205090	Spinocerebellar ataxia 21, 607454 (3), Autosomal dominant
ENSG00000205138	Mitochondrial complex II deficiency, 252011 (3), Autosomal recessive
ENSG00000205155	Acne inversa, familial, 2, with or without Dowling-Degos disease, 613736 (3), Autosomal dominant
ENSG00000205213	{Bone mineral density, low, susceptibility to}, 615311 (3)
ENSG00000205336	Polymicrogyria, bilateral frontoparietal, 606854 (3), Autosomal recessive; Polymicrogyria, bilateral perisylvian, 615752 (3)
ENSG00000205403	Complement factor I deficiency, 610984 (3), Autosomal recessive; {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3), Autosomal dominant; {Macular degeneration, age-related, 13, susceptibility to}, 615439 (3), Autosomal dominant
ENSG00000205413	MIRAGE syndrome, 617053 (3), Autosomal dominant; Tumoral calcinosis, familial, normophosphatemic, 610455 (3), Autosomal recessive
ENSG00000205420	Pachyonychia congenita 3, 615726 (3)
ENSG00000205426	Monilethrix, 158000 (3), Autosomal dominant
ENSG00000205571	{Spinal muscular atrophy, type III, modifier of}, 253400 (3), Autosomal recessive
ENSG00000205678	Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (3), Autosomal recessive
ENSG00000205808	Phospholipid phosphatase 6, 611666 (3)
ENSG00000205899	?Camptosynpolydactyly, complex, 607539 (3), Autosomal recessive; Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3), Autosomal recessive
ENSG00000205981	3-methylglutaconic aciduria, type V, 610198 (3), Autosomal recessive
ENSG00000206013	Osteogenesis imperfecta, type V, 610967 (3), Autosomal dominant
ENSG00000206172	Erythrocytosis, 7, 617981 (3); Heinz body anemias, alpha-, 140700 (3), Autosomal dominant; Hemoglobin H disease, nondeletional, 613978 (3); Methemoglobinemia, alpha type, 617973 (3); Thalassemias, alpha-, 604131 (3)
ENSG00000206503	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
ENSG00000206530	?Spermatogenic failure 20, 617593 (3), Autosomal recessive
ENSG00000206561	Myasthenic syndrome, congenital, 5, 603034 (3), Autosomal recessive
ENSG00000207695	EDICT syndrome, 614303 (3), Autosomal dominant
ENSG00000207935	?Retinal dystrophy and iris coloboma with or without cataract, 616722 (3), Autosomal dominant
ENSG00000213024	Striatonigral degeneration, infantile, 271930 (3), Autosomal recessive
ENSG00000213088	[Blood group, Duffy system], 110700 (3), Autosomal recessive, Autosomal dominant; {Malaria, vivax, protection against}, 611162 (3); [White blood cell count QTL], 611862 (3), Autosomal recessive
ENSG00000213123	Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 (3), Autosomal recessive
ENSG00000213139	Cataract 20, multiple types, 116100 (3), Autosomal dominant
ENSG00000213281	Colorectal cancer, somatic, 114500 (3); Epidermal nevus, somatic, 162900 (3); Melanocytic nevus syndrome, congenital, somatic, 137550 (3); Neurocutaneous melanosis, somatic, 249400 (3); Noonan syndrome 6, 613224 (3), Autosomal dominant; ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, 614470 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3); Thyroid carcinoma, follicular, somatic, 188470 (3)
ENSG00000213341	Cocoon syndrome, 613630 (3)
ENSG00000213380	Congenital disorder of glycosylation, type IIh, 611182 (3)
ENSG00000213398	Fish-eye disease, 136120 (3), Autosomal recessive; Norum disease, 245900 (3), Autosomal recessive
ENSG00000213614	GM2-gangliosidosis, several forms, 272800 (3), Autosomal recessive; [Hex A pseudodeficiency], 272800 (3), Autosomal recessive; Tay-Sachs disease, 272800 (3), Autosomal recessive
ENSG00000213619	Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial
ENSG00000213638	Mental retardation, autosomal recessive 36, 615286 (3), Autosomal recessive
ENSG00000213639	Noonan syndrome-like disorder with loose anagen hair 2, 617506 (3), Autosomal dominant
ENSG00000213658	Immunodeficiency 52, 617514 (3), Autosomal recessive
ENSG00000213689	Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3), Autosomal recessive, Autosomal dominant; Chilblain lupus, 610448 (3), Autosomal dominant; {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3), Autosomal dominant
ENSG00000213741	Diamond-Blackfan anemia 13, 615909 (3), Autosomal dominant
ENSG00000213853	Nephrotic syndrome, type 10, 615861 (3), Autosomal recessive
ENSG00000213892	Deafness, autosomal dominant 4B, 614614 (3), Autosomal dominant
ENSG00000213918	{Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant
ENSG00000213930	Galactosemia, 230400 (3), Autosomal recessive
ENSG00000213934	Fetal hemoglobin quantitative trait locus 1, 141749 (3), Autosomal dominant
ENSG00000214102	Oocyte maturation defect 5, 617996 (3), Autosomal recessive
ENSG00000214113	?Combined oxidative phosphorylation deficiency 19, 615595 (3), Autosomal recessive
ENSG00000214140	Retinitis pigmentosa 36, 610599 (3)
ENSG00000214160	Congenital disorder of glycosylation, type Id, 601110 (3), Autosomal recessive
ENSG00000214274	Amyotrophic lateral sclerosis 9, 611895 (3)
ENSG00000214413	?Bardet-Biedl syndrome 18, 615995 (3), Autosomal recessive
ENSG00000214960	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3), Autosomal recessive
ENSG00000215193	Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3), Autosomal recessive; Peroxisome biogenesis disorder 7B, 614873 (3), Autosomal recessive
ENSG00000215203	Deafness, autosomal recessive 25, 613285 (3), Autosomal recessive
ENSG00000215301	Mental retardation, X-linked 102, 300958 (3), X-linked recessive, X-linked dominant
ENSG00000215417	Feingold syndrome 2, 614326 (3), Autosomal dominant
ENSG00000215612	Oculoauricular syndrome, 612109 (3), Autosomal recessive
ENSG00000215644	{Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant
ENSG00000217930	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3), Autosomal recessive
ENSG00000218336	Microphthalmia, isolated, with coloboma 9, 615145 (3), Autosomal recessive
ENSG00000221829	Fanconi anemia, complementation group G, 614082 (3)
ENSG00000221838	Spastic paraplegia 50, autosomal recessive, 612936 (3), Autosomal recessive
ENSG00000223609	Thalassemia due to Hb Lepore (3); Thalassemia, delta- (3)
ENSG00000223802	Congenital heart defects, multiple types, 6, 613854 (3), Autosomal dominant; Right atrial isomerism (Ivemark), 208530 (3), Autosomal recessive,?Epilepsy, progressive myoclonic, 8, 616230 (3), Autosomal recessive
ENSG00000223865	{Beryllium disease, chronic, susceptibility to} (3)
ENSG00000223953	Retinal degeneration, late-onset, autosomal dominant, 605670 (3), Autosomal dominant
ENSG00000224389	C4B deficiency, 614379 (3)
ENSG00000225190	Osteopetrosis, autosomal dominant 3, 618107 (3), Autosomal dominant; ?Osteopetrosis, autosomal recessive 6, 611497 (3), Autosomal recessive
ENSG00000225614	Brittle cornea syndrome 1, 229200 (3), Autosomal recessive
ENSG00000225783	{Myocardial infarction, susceptibility to}, 608446 (3)
ENSG00000225830	Cerebrooculofacioskeletal syndrome 1, 214150 (3), Autosomal recessive; Cockayne syndrome, type B, 133540 (3), Autosomal recessive; De Sanctis-Cacchione syndrome, 278800 (3), Autosomal recessive; {Lung cancer, susceptibility to}, 211980 (3), Autosomal recessive; {Macular degeneration, age-related, susceptibility to, 5}, 613761 (3); Premature ovarian failure 11, 616946 (3), Autosomal dominant; UV-sensitive syndrome 1, 600630 (3), Autosomal recessive
ENSG00000225950	Glaucoma 1, open angle, 1O, 613100 (3)
ENSG00000226979	{Leprosy, susceptibility to, 4}, 610988 (3); {Myocardial infarction, susceptibility to}, 608446 (3); {Psoriatic arthritis, susceptibility to}, 607507 (3)
ENSG00000227268	Cowden syndrome 4, 615107 (3)
ENSG00000228716	Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3), Autosomal recessive
ENSG00000229474	Oocyte maturation defect 4, 617743 (3), Autosomal recessive
ENSG00000229807	X-inactivation, familial skewed, 300087 (3)
ENSG00000229833	Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial
ENSG00000231852	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3), Autosomal recessive; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3), Autosomal recessive
ENSG00000231925	Bare lymphocyte syndrome, type I, 604571 (3), Autosomal recessive
ENSG00000232810	{Asthma, susceptibility to}, 600807 (3), Autosomal dominant; {Dementia, vascular, susceptibility to} (3); {Malaria, cerebral, susceptibility to}, 611162 (3); {Migraine without aura, susceptibility to}, 157300 (3), Autosomal dominant; {Septic shock, susceptibility to} (3)
ENSG00000233608	Ablepharon-macrostomia syndrome, 200110 (3), Autosomal dominant; Barber-Say syndrome, 209885 (3), Autosomal dominant; Focal facial dermal dysplasia 3, Setleis type, 227260 (3), Autosomal recessive
ENSG00000233927	Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 (3), Autosomal dominant
ENSG00000234438	Nemaline myopathy 6, autosomal dominant, 609273 (3), Autosomal dominant
ENSG00000234745	{Abacavir hypersensitivity, susceptibility to} (3); {Drug-induced liver injury due to flucloxacillin} (3); {Spondyloarthropathy, susceptibility to, 1}, 106300 (3), Multifactorial; {Stevens-Johnson syndrome, susceptibility to}, 608579 (3); {Synovitis, chronic, susceptibility to} (3); {Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
ENSG00000234906	Hyperlipoproteinemia, type Ib, 207750 (3), Autosomal recessive
ENSG00000235169	[Blood group, Vel system], 615264 (3), Autosomal recessive
ENSG00000235590	Pseudohypoparathyroidism, type IB, 603233 (3), Autosomal dominant
ENSG00000235718	Microphthalmia, isolated 5, 611040 (3), Autosomal recessive; Nanophthalmos 2, 609549 (3)
ENSG00000236320	Bleeding disorder, platelet-type, 20, 616913 (3), Autosomal dominant
ENSG00000237412	Microphthalmia, isolated 6, 613517 (3), Autosomal recessive
ENSG00000237693	{Inflammatory bowel disease (Crohn disease) 19}, 612278 (3); {Mycobacterium tuberculosis, protection against}, 607948 (3)
ENSG00000239474	Nemaline myopathy 9, 615731 (3), Autosomal recessive
ENSG00000239672	Neuroblastoma, 256700 (3), Autosomal dominant, Isolated cases
ENSG00000239900	Adenylosuccinase deficiency, 103050 (3), Autosomal recessive
ENSG00000240065	?Proteasome-associated autoinflammatory syndrome 3, digenic, 617591 (3), Autosomal recessive
ENSG00000240505	Immunodeficiency, common variable, 2, 240500 (3), Autosomal recessive, Autosomal dominant; Immunoglobulin A deficiency 2, 609529 (3)
ENSG00000240583	[Aquaporin-1 deficiency], 110450 (3); [Blood group, Colton], 110450 (3)
ENSG00000240972	{Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302 (3)
ENSG00000241186	Forebrain defects (3)
ENSG00000241476	?Sarcoma, synovial, 300813 (3)
ENSG00000241635	[Bilirubin, serum level of, QTL1], 601816 (3); Crigler-Najjar syndrome, type I, 218800 (3), Autosomal recessive; Crigler-Najjar syndrome, type II, 606785 (3), Autosomal recessive; [Gilbert syndrome], 143500 (3), Autosomal recessive; Hyperbilirubinemia, familial transient neonatal, 237900 (3), Autosomal recessive
ENSG00000241935	Hyperoxaluria, primary, type III, 613616 (3)
ENSG00000241973	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3), Autosomal recessive
ENSG00000242110	Alpha-methylacyl-CoA racemase deficiency, 614307 (3), Autosomal recessive; Bile acid synthesis defect, congenital, 4, 214950 (3), Autosomal recessive
ENSG00000242802	Spastic paraplegia 48, autosomal recessive, 613647 (3), Autosomal recessive
ENSG00000242866	Deafness, autosomal recessive 16, 603720 (3), Autosomal recessive
ENSG00000243335	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3), Autosomal recessive
ENSG00000243646	{Hepatitis B virus, susceptibility to}, 610424 (3); Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 (3), Autosomal recessive
ENSG00000243649	?Complement factor B deficiency, 615561 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3), Autosomal dominant; {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)
ENSG00000243989	Aminoacylase 1 deficiency, 609924 (3), Autosomal recessive
ENSG00000244038	?Congenital disorder of glycosylation, type Ir, 614507 (3), Autosomal recessive
ENSG00000244045	Congenital disorder of glycosylation, type IIp, 616829 (3), Autosomal recessive
ENSG00000244414	{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3), Autosomal recessive, Autosomal dominant; {Macular degeneration, age-related, reduced risk of}, 603075 (3), Autosomal dominant
ENSG00000244462	{Schizophrenia 19, susceptibility to}, 617629 (3), Autosomal dominant
ENSG00000244486	Van den Ende-Gupta syndrome, 600920 (3), Autosomal recessive
ENSG00000244731	[Blood group, Rodgers], 614374 (3); C4a deficiency, 614380 (3), Autosomal recessive
ENSG00000244734	Delta-beta thalassemia, 141749 (3), Autosomal dominant; Erythrocytosis 6, 617980 (3); Heinz body anemia, 140700 (3), Autosomal dominant; Hereditary persistence of fetal hemoglobin, 141749 (3), Autosomal dominant; {Malaria, resistance to}, 611162 (3); Methmoglobinemia, beta type, 617971 (3); Sickle cell anemia, 603903 (3), Autosomal recessive; Thalassemia, beta, 613985 (3); Thalassemia-beta, dominant inclusion-body, 603902 (3)
ENSG00000244752	Cataract 3, multiple types, 601547 (3), Autosomal dominant
ENSG00000245848	?Leukemia, acute myeloid, 601626 (3), Autosomal dominant; Leukemia, acute myeloid, somatic, 601626 (3)
ENSG00000247626	?Combined oxidative phosphorylation deficiency 25, 616430 (3), Autosomal recessive; Spastic ataxia 3, autosomal recessive, 611390 (3), Autosomal recessive
ENSG00000248098	Maple syrup urine disease, type Ia, 248600 (3), Autosomal recessive
ENSG00000248099	Cryptorchidism, 219050 (3), Autosomal dominant
ENSG00000248144	{Alcohol dependence, protection against}, 103780 (3), Multifactorial; {Parkinson disease, susceptibility to}, 168600 (3), Isolated cases, Multifactorial
ENSG00000248746	[Alpha-actinin-3 deficiency], 617749 (3); [Sprinting performance], 617749 (3)
ENSG00000250361	[Blood group, Ss], 111740 (3); {Malaria, resistance to}, 611162 (3)
ENSG00000250479	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3), Autosomal dominant; ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3), Autosomal dominant; Spinal muscular atrophy, Jokela type, 615048 (3), Autosomal dominant
ENSG00000251322	Phelan-McDermid syndrome, 606232 (3), Autosomal dominant; {Schizophrenia 15}, 613950 (3)
ENSG00000253710	Congenital disorder of glycosylation, type Ip, 613661 (3), Autosomal recessive
ENSG00000253729	Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3), Autosomal recessive
ENSG00000254585	Schaaf-Yang syndrome, 615547 (3), Autosomal dominant
ENSG00000254636	{Macular degeneration, age-related, 8}, 613778 (3)
ENSG00000254647	Diabetes mellitus, insulin-dependent, 2, 125852 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal, 606176 (3), Autosomal recessive, Autosomal dominant; Hyperproinsulinemia, 616214 (3), Autosomal dominant; Maturity-onset diabetes of the young, type 10, 613370 (3), Autosomal dominant
ENSG00000255072	Hyperphosphatasia with mental retardation syndrome 6, 616809 (3), Autosomal recessive
ENSG00000255974	Coumarin resistance, 122700 (3), Autosomal dominant; {Lung cancer, resistance to}, 211980 (3), Autosomal recessive; {Nicotine addiction, protection from}, 188890 (3)
ENSG00000256053	Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial
ENSG00000256061	Ciliary dyskinesia, primary, 25, 615482 (3), Autosomal recessive; {Dyslexia, susceptibility to, 1}, 127700 (3), Autosomal dominant
ENSG00000256269	Porphyria, acute intermittent, 176000 (3), Autosomal dominant; Porphyria, acute intermittent, nonerythroid variant, 176000 (3), Autosomal dominant
ENSG00000256525	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3), Autosomal dominant
ENSG00000257017	[Anhaptoglobinemia], 614081 (3); [Hypohaptoglobinemia], 614081 (3)
ENSG00000257138	[Phenylthiocarbamide tasting], 171200 (3), Autosomal dominant
ENSG00000258366	Dyskeratosis congenita, autosomal dominant 4, 615190 (3), Autosomal recessive, Autosomal dominant; Dyskeratosis congenita, autosomal recessive 5, 615190 (3), Autosomal recessive, Autosomal dominant; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3), Autosomal dominant
ENSG00000258839	{Albinism, oculocutaneous, type II, modifier of}, 203200 (3), Autosomal recessive; [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3); {Melanoma, cutaneous malignant, 5}, 613099 (3); [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3), Autosomal recessive; [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3), Autosomal recessive; {UV-induced skin damage}, 266300 (3), Autosomal recessive
ENSG00000258947	Cortical dysplasia, complex, with other brain malformations 1, 614039 (3), Autosomal dominant; Fibrosis of extraocular muscles, congenital, 3A, 600638 (3), Autosomal dominant
ENSG00000259207	Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3), Autosomal dominant; Glanzmann thrombasthenia, 273800 (3), Autosomal recessive; {Myocardial infarction, susceptibility to}, 608446 (3); Purpura, posttransfusion (3); Thrombocytopenia, neonatal alloimmune (3)
ENSG00000259384	Growth hormone deficiency, isolated, type IA, 262400 (3), Autosomal recessive; Growth hormone deficiency, isolated, type IB, 612781 (3); Growth hormone deficiency, isolated, type II, 173100 (3), Autosomal dominant; Kowarski syndrome, 262650 (3), Autosomal recessive
ENSG00000260230	Epileptic encephalopathy, early infantile, 37, 616981 (3), Autosomal recessive
ENSG00000260458	{Thyrotoxic periodic paralysis, susceptibility to, 2}, 613239 (3), Isolated cases
ENSG00000261456	Oocyte maturation defect 2, 616780 (3), Autosomal recessive, Autosomal dominant
ENSG00000261609	Giant axonal neuropathy-1, 256850 (3), Autosomal recessive
ENSG00000262919	STAR syndrome, 300707 (3), X-linked dominant
ENSG00000263639	{Prostate cancer, hereditary, 13}, 611928 (3)
ENSG00000263761	Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3), Autosomal dominant
ENSG00000264229	Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3), Autosomal recessive; Roifman syndrome, 616651 (3), Autosomal recessive
ENSG00000265107	Atrial fibrillation, familial, 11, 614049 (3), Autosomal dominant; Atrial standstill, digenic (GJA5/SCN5A), 108770 (3), Autosomal dominant
ENSG00000265203	?Retinitis pigmentosa 66, 615233 (3), Autosomal recessive
ENSG00000265241	Thrombocytopenia-absent radius syndrome, 274000 (3), Autosomal recessive
ENSG00000266173	Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive
ENSG00000267534	Deafness, autosomal recessive 68, 610419 (3), Autosomal recessive
ENSG00000268104	{Obesity, susceptibility to, BMIQ11}, 300306 (3)
ENSG00000268221	Blue cone monochromacy, 303700 (3), X-linked recessive; Colorblindness, deutan, 303800 (3), X-linked
ENSG00000269058	?Cardiomyopathy, hypertrophic, 19, 613875 (3), Autosomal dominant
ENSG00000269335	Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (3); Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3); Immunodeficiency 33, 300636 (3), X-linked recessive; Immunodeficiency, isolated, 300584 (3); Incontinentia pigmenti, 308300 (3), X-linked dominant; Invasive pneumococcal disease, recurrent isolated, 2, 300640 (3)
ENSG00000269821	Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant
ENSG00000269900	Anauxetic dysplasia 1, 607095 (3), Autosomal recessive; Cartilage-hair hypoplasia, 250250 (3), Autosomal recessive; Metaphyseal dysplasia without hypotrichosis, 250460 (3), Autosomal recessive
ENSG00000271503	{HIV-1 disease, delayed progression of} (3); {HIV-1 disease, rapid progression of} (3)
ENSG00000272047	Trichothiodystrophy 3, photosensitive, 616395 (3)
ENSG00000272333	Dystonia 28, childhood-onset, 617284 (3), Autosomal dominant
ENSG00000273079	Epileptic encephalopathy, early infantile, 27, 616139 (3), Autosomal dominant; Mental retardation, autosomal dominant 6, 613970 (3), Autosomal dominant
ENSG00000273540	Corneal dystrophy, Fuchs endothelial, 8, 615523 (3), Autosomal dominant
ENSG00000273611	PEHO syndrome, 260565 (3), Autosomal recessive
ENSG00000273820	Mental retardation, X-linked 105, 300984 (3), X-linked recessive
ENSG00000274286	Epilepsy, myoclonic, familial adult, 2, 607876 (3), Autosomal dominant
ENSG00000275410	Diabetes mellitus, noninsulin-dependent, 125853 (3), Autosomal dominant; {Renal cell carcinoma}, 144700 (3); Renal cysts and diabetes syndrome, 137920 (3), Autosomal dominant
ENSG00000275896	{Pancreatitis, chronic, protection against}, 167800 (3), Autosomal dominant
ENSG00000276747	Preimplantation embryonic lethality 2, 617234 (3), Autosomal recessive
ENSG00000277161	Glycosylphosphatidylinositol biosynthesis defect 11, 616025 (3), Autosomal recessive
ENSG00000277399	Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3), Autosomal recessive
ENSG00000277494	Hyperlipoproteinemia, type 1D, 615947 (3), Autosomal recessive
ENSG00000277586	Charcot-Marie-Tooth disease, dominant intermediate G, 617882 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 1F, 607734 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, type 2E, 607684 (3), Autosomal dominant
ENSG00000277893	Pseudovaginal perineoscrotal hypospadias, 264600 (3), Autosomal recessive
ENSG00000277925	{Aplastic anemia}, 614743 (3), Autosomal dominant; Dyskeratosis congenita, autosomal dominant 1, 127550 (3), Autosomal dominant; {Pulmonary fibrosis, idiopathic, susceptibility to}, 614743 (3), Autosomal dominant
ENSG00000278570	Enhanced S-cone syndrome, 268100 (3), Autosomal recessive; Retinitis pigmentosa 37, 611131 (3), Autosomal recessive, Autosomal dominant
ENSG00000284547	[Bone mineral density QTL 15], 613418 (3), Autosomal recessive, Autosomal dominant
ENSG00000284770	Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 (3), Autosomal recessive; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3), Autosomal recessive; Kenny-Caffey syndrome, type 1, 244460 (3), Autosomal recessive
ENSG00000284862	Ciliary dyskinesia, primary, 14, 613807 (3)