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Merge pull request #13 from opentargets/il-2805
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refactor: added `AMP-PD` project for PPR569774
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@ireneisdoomed
ireneisdoomed authored Nov 15, 2022
2 parents f877437 + 4b6050c commit 153c378
Showing 1 changed file with 22 additions and 22 deletions.
44 changes: 22 additions & 22 deletions gene_burden/curated_evidence.tsv
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Expand Up @@ -7958,25 +7958,25 @@ REGENERON "" TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 1.96e-38 1.96 -
REGENERON "" OBSCN Impedance of arm left (23110) HP_0000924 6.82e-13 6.82 -13 "" -0.03 -0.017 -0.024 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 44590.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 ""
REGENERON "" UGT1A3 Total bilirubin (30840) EFO_0004570 2.91e-14 2.91 -14 "" 0.114 0.193 0.154 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 2103.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 ""
REGENERON "" LCORL Standing height (50) EFO_0004339 2.95e-32 2.95 -32 "" 0.45 0.629 0.54 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 161.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 ""
"" GBA ENSG00000177628 parkinson disease MONDO_0005180 1,46E-21 1,46 -21 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 65535 13885 "" "" meta-analysis Meta-analysis of burden tests carried out with missense variants with a MAF smaller than 1% PPR569774 ""
"" GBA ENSG00000177628 parkinson disease MONDO_0005180 1,32E-22 1,32 -22 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 65535 13885 "" "" meta-analysis Meta-analysis of burden tests carried out with variants of high or moderate impact with a MAF smaller than 1% PPR569774 ""
"" GBA ENSG00000177628 parkinson disease MONDO_0005180 9,12E-22 9,12 -22 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 65535 13885 "" "" meta-analysis Meta-analysis of burden tests carried out with variants predicted to be deleterious or LOF and with a MAF smaller than 1% PPR569774 ""
"" GBA ENSG00000177628 parkinson disease MONDO_0005180 4,48E-12 4,48 -12 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 65535 13885 "" "" meta-analysis Meta-analysis of burden tests carried out with missense variants with a MAF smaller than 0.1% PPR569774 ""
"" GBA ENSG00000177628 parkinson disease MONDO_0005180 4,87E-16 4,87 -16 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 65535 13885 "" "" meta-analysis Meta-analysis of burden tests carried out with variants of high or moderate impact with a MAF smaller than 0.1% PPR569774 ""
"" GBA ENSG00000177628 parkinson disease MONDO_0005180 1,20E-14 1,2 -14 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 65535 13885 "" "" meta-analysis Meta-analysis of burden tests carried out with variants predicted to be deleterious or LOF and with a MAF smaller than 0.1% PPR569774 ""
"" LRRK2 ENSG00000188906 parkinson disease MONDO_0005180 7,15E-07 7,15 -7 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with missense variants with a MAF smaller than 1% PPR569774 ""
"" LRRK2 ENSG00000188906 parkinson disease MONDO_0005180 7,23E-07 7,23 -7 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with variants of high or moderate impact with a MAF smaller than 1% PPR569774 ""
"" LRRK2 ENSG00000188906 parkinson disease MONDO_0005180 2,49E-07 2,49 -7 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with variants predicted to be deleterious or LOF and with a MAF smaller than 1% PPR569774 ""
"" B3GNT3 ENSG00000179913 parkinson disease MONDO_0005180 4,40E-09 4,4 -9 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 65535 13885 "" "" meta-analysis Meta-analysis of burden tests carried out with pLOF variants and with a MAF smaller than 1% PPR569774 ""
"" B3GNT3 ENSG00000179913 parkinson disease MONDO_0005180 4,40E-09 4,4 -9 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with pLOF variants and with a MAF smaller than 0.1% PPR569774 ""
"" CAPN10 ENSG00000142330 parkinson disease MONDO_0005180 3,60E-07 3,6 -7 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with pLOF variants and with a MAF smaller than 1% PPR569774 ""
"" CAPN10 ENSG00000142330 parkinson disease MONDO_0005180 3,60E-07 3,6 -7 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with pLOF variants and with a MAF smaller than 0.1% PPR569774 ""
"" AUNIP ENSG00000127423 parkinson disease MONDO_0005180 1,54E-08 1,54 -8 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with variants of high or moderate impact with a MAF smaller than 0.1% PPR569774 ""
"" AUNIP ENSG00000127423 parkinson disease MONDO_0005180 1,64E-08 1,64 -8 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with pLOF variants and with a MAF smaller than 0.1% PPR569774 ""
"" AUNIP ENSG00000127423 parkinson disease MONDO_0005180 2,12E-07 2,12 -7 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with variants predicted to be deleterious or LOF and with a MAF smaller than 0.1% PPR569774 ""
"" TREML1 ENSG00000161911 parkinson disease MONDO_0005180 3,58E-07 3,58 -7 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 65535 13885 "" "" meta-analysis Meta-analysis of burden tests carried out with variants of high or moderate impact with a MAF smaller than 0.1% PPR569774 ""
"" OR1G1 ENSG00000183024 parkinson disease MONDO_0005180 6,58E-07 6,58 -7 "" "" "" "" "" EUR HANCESTRO_0005 UK Biobank 200k "" 4131 668 "" "" skat-o SKAT-O test carried out with variants predicted to be deleterious or LOF and with a MAF smaller than 1% PPR569774 ""
"" OR1G1 ENSG00000183024 parkinson disease MONDO_0005180 6,58E-07 6,58 -7 "" "" "" "" "" EUR HANCESTRO_0005 UK Biobank 200k "" 4131 668 "" "" skat-o SKAT-O test carried out with variants predicted to be deleterious or LOF and with a MAF smaller than 0.1% PPR569774 ""
"" TUBA1B ENSG00000123416 parkinson disease MONDO_0005180 9,48E-07 9,48 -7 "" "" "" "" "" EUR HANCESTRO_0005 UK Biobank 200k "" 34978 6033 "" "" skat-o SKAT-O test carried out with variants of high or moderate impact with a MAF smaller than 1% PPR569774 ""
"" TUBA1B ENSG00000123416 parkinson disease MONDO_0005180 9,48E-07 9,48 -7 "" "" "" "" "" EUR HANCESTRO_0005 UK Biobank 200k "" 34978 6033 "" "" skat-o SKAT-O test carried out with variants of high or moderate impact with a MAF smaller than 0.1% PPR569774 ""
"" ADH5 ENSG00000197894 parkinson disease MONDO_0005180 3,13E-07 3,13 -7 "" "" "" "" "" EUR HANCESTRO_0005 UK Biobank 200k "" 6748 1105 "" "" skat-o SKAT-O test carried out with variants predicted to be deleterious or LOF and with a MAF smaller than 1% PPR569774 ""
AMP-PD GBA ENSG00000177628 parkinson disease MONDO_0005180 1,46E-21 1,46 -21 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 65535 13885 "" "" meta-analysis Meta-analysis of burden tests carried out with missense variants with a MAF smaller than 1% PPR569774 ""
AMP-PD GBA ENSG00000177628 parkinson disease MONDO_0005180 1,32E-22 1,32 -22 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 65535 13885 "" "" meta-analysis Meta-analysis of burden tests carried out with variants of high or moderate impact with a MAF smaller than 1% PPR569774 ""
AMP-PD GBA ENSG00000177628 parkinson disease MONDO_0005180 9,12E-22 9,12 -22 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 65535 13885 "" "" meta-analysis Meta-analysis of burden tests carried out with variants predicted to be deleterious or LOF and with a MAF smaller than 1% PPR569774 ""
AMP-PD GBA ENSG00000177628 parkinson disease MONDO_0005180 4,48E-12 4,48 -12 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 65535 13885 "" "" meta-analysis Meta-analysis of burden tests carried out with missense variants with a MAF smaller than 0.1% PPR569774 ""
AMP-PD GBA ENSG00000177628 parkinson disease MONDO_0005180 4,87E-16 4,87 -16 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 65535 13885 "" "" meta-analysis Meta-analysis of burden tests carried out with variants of high or moderate impact with a MAF smaller than 0.1% PPR569774 ""
AMP-PD GBA ENSG00000177628 parkinson disease MONDO_0005180 1,20E-14 1,2 -14 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 65535 13885 "" "" meta-analysis Meta-analysis of burden tests carried out with variants predicted to be deleterious or LOF and with a MAF smaller than 0.1% PPR569774 ""
AMP-PD LRRK2 ENSG00000188906 parkinson disease MONDO_0005180 7,15E-07 7,15 -7 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with missense variants with a MAF smaller than 1% PPR569774 ""
AMP-PD LRRK2 ENSG00000188906 parkinson disease MONDO_0005180 7,23E-07 7,23 -7 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with variants of high or moderate impact with a MAF smaller than 1% PPR569774 ""
AMP-PD LRRK2 ENSG00000188906 parkinson disease MONDO_0005180 2,49E-07 2,49 -7 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with variants predicted to be deleterious or LOF and with a MAF smaller than 1% PPR569774 ""
AMP-PD B3GNT3 ENSG00000179913 parkinson disease MONDO_0005180 4,40E-09 4,4 -9 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 65535 13885 "" "" meta-analysis Meta-analysis of burden tests carried out with pLOF variants and with a MAF smaller than 1% PPR569774 ""
AMP-PD B3GNT3 ENSG00000179913 parkinson disease MONDO_0005180 4,40E-09 4,4 -9 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with pLOF variants and with a MAF smaller than 0.1% PPR569774 ""
AMP-PD CAPN10 ENSG00000142330 parkinson disease MONDO_0005180 3,60E-07 3,6 -7 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with pLOF variants and with a MAF smaller than 1% PPR569774 ""
AMP-PD CAPN10 ENSG00000142330 parkinson disease MONDO_0005180 3,60E-07 3,6 -7 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with pLOF variants and with a MAF smaller than 0.1% PPR569774 ""
AMP-PD AUNIP ENSG00000127423 parkinson disease MONDO_0005180 1,54E-08 1,54 -8 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with variants of high or moderate impact with a MAF smaller than 0.1% PPR569774 ""
AMP-PD AUNIP ENSG00000127423 parkinson disease MONDO_0005180 1,64E-08 1,64 -8 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with pLOF variants and with a MAF smaller than 0.1% PPR569774 ""
AMP-PD AUNIP ENSG00000127423 parkinson disease MONDO_0005180 2,12E-07 2,12 -7 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 58834 7184 "" "" meta-analysis Meta-analysis of burden tests carried out with variants predicted to be deleterious or LOF and with a MAF smaller than 0.1% PPR569774 ""
AMP-PD TREML1 ENSG00000161911 parkinson disease MONDO_0005180 3,58E-07 3,58 -7 "" "" "" "" "" EUR HANCESTRO_0005 "" "" 65535 13885 "" "" meta-analysis Meta-analysis of burden tests carried out with variants of high or moderate impact with a MAF smaller than 0.1% PPR569774 ""
AMP-PD OR1G1 ENSG00000183024 parkinson disease MONDO_0005180 6,58E-07 6,58 -7 "" "" "" "" "" EUR HANCESTRO_0005 UK Biobank 200k "" 4131 668 "" "" skat-o SKAT-O test carried out with variants predicted to be deleterious or LOF and with a MAF smaller than 1% PPR569774 ""
AMP-PD OR1G1 ENSG00000183024 parkinson disease MONDO_0005180 6,58E-07 6,58 -7 "" "" "" "" "" EUR HANCESTRO_0005 UK Biobank 200k "" 4131 668 "" "" skat-o SKAT-O test carried out with variants predicted to be deleterious or LOF and with a MAF smaller than 0.1% PPR569774 ""
AMP-PD TUBA1B ENSG00000123416 parkinson disease MONDO_0005180 9,48E-07 9,48 -7 "" "" "" "" "" EUR HANCESTRO_0005 UK Biobank 200k "" 34978 6033 "" "" skat-o SKAT-O test carried out with variants of high or moderate impact with a MAF smaller than 1% PPR569774 ""
AMP-PD TUBA1B ENSG00000123416 parkinson disease MONDO_0005180 9,48E-07 9,48 -7 "" "" "" "" "" EUR HANCESTRO_0005 UK Biobank 200k "" 34978 6033 "" "" skat-o SKAT-O test carried out with variants of high or moderate impact with a MAF smaller than 0.1% PPR569774 ""
AMP-PD ADH5 ENSG00000197894 parkinson disease MONDO_0005180 3,13E-07 3,13 -7 "" "" "" "" "" EUR HANCESTRO_0005 UK Biobank 200k "" 6748 1105 "" "" skat-o SKAT-O test carried out with variants predicted to be deleterious or LOF and with a MAF smaller than 1% PPR569774 ""

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