Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.440 None 1.000 0 2 2014 2019
Entrez Id: 137682
Gene Symbol: NDUFAF6
NDUFAF6 		NADH:ubiquinone oxidoreductase complex assembly factor 6 0.659 0.615 9.1E-08
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.440 strong 1.000 0 1 2008 2019
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		ATP synthase F0 subunit 6 0.541 0.731
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.500 None 1.000 21 11 1990 2020