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: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 definitive 1.000 12 0 1991 2016
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3 		solute carrier family 19 member 3 0.610 0.692 0.10
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 definitive 1.000 10 0 2010 2016
Entrez Id: 51204
Gene Symbol: TACO1
TACO1 		translational activator of cytochrome c oxidase I 0.647 0.577 1.5E-03
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 moderate 1.000 3 0 2009 2016
Entrez Id: 55967
Gene Symbol: NDUFA12
NDUFA12 		NADH:ubiquinone oxidoreductase subunit A12 0.659 0.462 7.4E-05
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 limited 1.000 3 0 2011 2016
Entrez Id: 4729
Gene Symbol: NDUFV2
NDUFV2 		NADH:ubiquinone oxidoreductase core subunit V2 0.610 0.500 5.6E-03
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 limited 1.000 2 0 2015 2016
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 moderate 1.000 8 0 1992 2015
Entrez Id: 1352
Gene Symbol: COX10
COX10 		cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 0.623 0.654 8.4E-02
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 moderate 1.000 7 0 1990 2015
Entrez Id: 1355
Gene Symbol: COX15
COX15 		cytochrome c oxidase assembly homolog COX15 0.638 0.538 1.1E-13
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 limited 1.000 6 0 2002 2015
Entrez Id: 100131801
Gene Symbol: PET100
PET100 		PET100 cytochrome c oxidase chaperone 0.650 0.577 3.6E-04
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 moderate 1.000 4 0 1996 2015
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ 		ubiquinol-cytochrome c reductase complex III subunit VII 0.722 0.308 4.8E-02
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 limited 1.000 2 0 2008 2015
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 definitive 1.000 7 0 1999 2010