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: 4724
Gene Symbol: NDUFS4
NDUFS4 		NADH:ubiquinone oxidoreductase subunit S4 0.587 0.808 3.1E-04
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.910 None 1.000 0 6 1998 2016
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		NADH:ubiquinone oxidoreductase core subunit V1 0.617 0.538 6.4E-11
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.640 None 1.000 4 5 1999 2018
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		NADH:ubiquinone oxidoreductase core subunit S1 0.595 0.692 6.6E-11
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.620 None 1.000 0 2 2001 2016
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2 		NADH:ubiquinone oxidoreductase core subunit S2 0.601 0.654 1.4E-03
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.610 None 1.000 2 1 2004 2016
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		nucleotide binding protein like 0.670 0.423 1.1E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.610 None 1.000 1 2 2010 2016
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2 		NADH:ubiquinone oxidoreductase complex assembly factor 2 0.641 0.577 2.1E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.600 None 1.000 2 1 2005 2016
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		FAD dependent oxidoreductase domain containing 1 0.633 0.462 2.0E-16
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.600 strong 1.000 1 3 1998 2016
Entrez Id: 79133
Gene Symbol: NDUFAF5
NDUFAF5 		NADH:ubiquinone oxidoreductase complex assembly factor 5 0.674 0.462 3.1E-10
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.600 strong 1.000 1 1 2008 2019
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
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: 54539
Gene Symbol: NDUFB11
NDUFB11 		NADH:ubiquinone oxidoreductase subunit B11 0.566 0.692 0.80
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.400 None 1.000 0 1 2016 2016
Entrez Id: 4536
Gene Symbol: ND2
ND2 		MTND2 0.601 0.615
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.400 None 1.000 0 2 2002 2005
Entrez Id: 51079
Gene Symbol: NDUFA13
NDUFA13 		NADH:ubiquinone oxidoreductase subunit A13 0.556 0.692 3.8E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 1468
Gene Symbol: SLC25A10
SLC25A10 		solute carrier family 25 member 10 0.666 0.500 5.9E-10
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 4538
Gene Symbol: ND4
ND4 		NADH dehydrogenase, subunit 4 (complex I) 0.546 0.769
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.100 None 0 1