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: 4705
Gene Symbol: NDUFA10
NDUFA10 		NADH:ubiquinone oxidoreductase subunit A10 0.678 0.385 6.2E-08
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 limited 1.000 5 0 2011 2017
Entrez Id: 84340
Gene Symbol: GFM2
GFM2 		G elongation factor mitochondrial 2 0.736 0.269 1.5E-18
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 moderate 1.000 4 0 2009 2017
Entrez Id: 55699
Gene Symbol: IARS2
IARS2 		isoleucyl-tRNA synthetase 2, mitochondrial 0.590 0.654 8.1E-02
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 limited 1.000 4 0 2014 2018
Entrez Id: 100131801
Gene Symbol: PET100
PET100 		PET100 cytochrome c oxidase chaperone 0.650 0.577 3.6E-04
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 moderate 1.000 4 0 1996 2015
Entrez Id: 55967
Gene Symbol: NDUFA12
NDUFA12 		NADH:ubiquinone oxidoreductase subunit A12 0.659 0.462 7.4E-05
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 limited 1.000 3 0 2011 2016
Entrez Id: 55037
Gene Symbol: PTCD3
PTCD3 		pentatricopeptide repeat domain 3 0.769 0.192 2.5E-22
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 limited 1.000 3 0 2009 2019
Entrez Id: 51204
Gene Symbol: TACO1
TACO1 		translational activator of cytochrome c oxidase I 0.647 0.577 1.5E-03
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 moderate 1.000 3 0 2009 2016
Entrez Id: 100303755
Gene Symbol: PET117
PET117 		PET117 cytochrome c oxidase chaperone 0.769 0.154 3.2E-02
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 limited 1.000 3 0 2015 2017
Entrez Id: 79731
Gene Symbol: NARS2
NARS2 		asparaginyl-tRNA synthetase 2, mitochondrial 0.650 0.577 7.1E-08
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 limited 1.000 2 0 2015 2018
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ 		ubiquinol-cytochrome c reductase complex III subunit VII 0.722 0.308 4.8E-02
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 limited 1.000 2 0 2008 2015
Entrez Id: 4729
Gene Symbol: NDUFV2
NDUFV2 		NADH:ubiquinone oxidoreductase core subunit V2 0.610 0.500 5.6E-03
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 limited 1.000 2 0 2015 2016