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: 4709
Gene Symbol: NDUFB3
NDUFB3 		NADH:ubiquinone oxidoreductase subunit B3 0.705 0.538 1.6E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.600 strong 1.000 0 1 2012 2016
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3 		NADH:ubiquinone oxidoreductase subunit B3 0.705 0.538 1.6E-05
CUI: C4748806
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 		disease 0.600 strong 1.000 0 2 2012 2016
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3 		NADH:ubiquinone oxidoreductase subunit B3 0.705 0.538 1.6E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 0 1