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: 4729
Gene Symbol: NDUFV2
NDUFV2 		NADH:ubiquinone oxidoreductase core subunit V2 0.610 0.500 5.6E-03
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.310 limited 1.000 2 0 2015 2016
Entrez Id: 100303755
Gene Symbol: PET117
PET117 		PET117 cytochrome c oxidase chaperone 0.769 0.154 3.2E-02
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.300 limited 1.000 3 0 2015 2017
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ 		ubiquinol-cytochrome c reductase complex III subunit VII 0.722 0.308 4.8E-02
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.300 limited 1.000 2 0 2008 2015
Entrez Id: 55699
Gene Symbol: IARS2
IARS2 		isoleucyl-tRNA synthetase 2, mitochondrial 0.590 0.654 8.1E-02
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.430 limited 1.000 4 0 2014 2018
Entrez Id: 1352
Gene Symbol: COX10
COX10 		cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 0.623 0.654 8.4E-02
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.610 moderate 1.000 7 0 1990 2015
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3 		solute carrier family 19 member 3 0.610 0.692 0.10
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.340 definitive 1.000 10 0 2010 2017
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		NADH:ubiquinone oxidoreductase core subunit S8 0.636 0.538 0.17
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.630 moderate 1.000 9 0 1998 2018
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		NADH:ubiquinone oxidoreductase subunit A1 0.636 0.423 0.55
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.320 moderate 1.000 10 0 1996 2018
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2 		NADH:ubiquinone oxidoreductase subunit A2 0.617 0.577 0.77
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.520 moderate 1.000 9 0 1998 2018
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7 		NADH:ubiquinone oxidoreductase core subunit S7 0.579 0.769 0.91
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.550 moderate 1.000 7 0 1999 2019
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		pyruvate dehydrogenase E1 subunit alpha 1 0.581 0.538 0.99
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.310 definitive 1.000 8 0 1993 2017