Source: CLINGEN

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: 4719
Gene Symbol: NDUFS1
NDUFS1 		NADH:ubiquinone oxidoreductase core subunit S1 0.595 0.692 6.6E-11
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.520 definitive 1.000 12 0 1991 2016