Source: GENOMICS_ENGLAND

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: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 1.000 definitive 0.968 3 0 2001 2019
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		SURF1 cytochrome c oxidase assembly factor 0.578 0.654 1.6E-13
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 1.000 definitive 0.987 2 0 1998 2018
Entrez Id: 1355
Gene Symbol: COX15
COX15 		cytochrome c oxidase assembly homolog COX15 0.638 0.538 1.1E-13
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.740 limited 1.000 2 0 2002 2016
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.730 moderate 0.917 3 0 1992 2017
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.700 limited 1.000 4 0 1998 2017
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		NADH:ubiquinone oxidoreductase core subunit S3 0.581 0.769 5.8E-04
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.640 moderate 1.000 1 0 1998 2018
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 1 0 1998 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 2 0 1990 2015
Entrez Id: 51204
Gene Symbol: TACO1
TACO1 		translational activator of cytochrome c oxidase I 0.647 0.577 1.5E-03
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.610 moderate 1.000 0 0 2009 2016
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 2 0 1999 2019
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 2 0 1998 2018
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		NADH:ubiquinone oxidoreductase core subunit S1 0.595 0.692 6.6E-11
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.520 definitive 1.000 1 0 1991 2016
Entrez Id: 100131801
Gene Symbol: PET100
PET100 		PET100 cytochrome c oxidase chaperone 0.650 0.577 3.6E-04
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.520 moderate 1.000 1 0 1996 2015
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10 		NADH:ubiquinone oxidoreductase subunit A10 0.678 0.385 6.2E-08
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.510 limited 1.000 4 0 2011 2017
Entrez Id: 55967
Gene Symbol: NDUFA12
NDUFA12 		NADH:ubiquinone oxidoreductase subunit A12 0.659 0.462 7.4E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.510 limited 1.000 1 0 2011 2016
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9 		NADH:ubiquinone oxidoreductase subunit A9 0.653 0.385 4.8E-03
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.500 moderate 1.000 2 0 2012 2018
Entrez Id: 137682
Gene Symbol: NDUFAF6
NDUFAF6 		NADH:ubiquinone oxidoreductase complex assembly factor 6 0.659 0.615 9.1E-08
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.440 strong 1.000 3 0 2008 2019
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2 		NADH:ubiquinone oxidoreductase complex assembly factor 2 0.641 0.577 2.1E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.420 None 1.000 2 0 2005 2016
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2 		NADH:ubiquinone oxidoreductase core subunit S2 0.601 0.654 1.4E-03
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.330 strong 1.000 2 0 2010 2015
Entrez Id: 1738
Gene Symbol: DLD
DLD 		dihydrolipoamide dehydrogenase 0.517 0.769 9.5E-03
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.320 None 1.000 1 0 2003 2016
Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2 		decaprenyl diphosphate synthase subunit 2 0.626 0.577 4.4E-08
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.310 strong 1.000 1 0 2006 2008