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: 4722
Gene Symbol: NDUFS3
NDUFS3 		NADH:ubiquinone oxidoreductase core subunit S3 0.581 0.769 5.8E-04
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		disease 0.600 None 1.000 3 2 2004 2018
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		NADH:ubiquinone oxidoreductase core subunit S3 0.581 0.769 5.8E-04
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.600 None 1.000 0 2 2009 2016