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: 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 12 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 9 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 6 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 8 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 6 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 10 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 9 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 7 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 3 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 7 0 1999 2019
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.540 definitive 0.917 7 0 1999 2016
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 12 0 1991 2016
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: 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 4 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 5 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 3 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 5 0 2012 2018
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: 55572
Gene Symbol: FOXRED1
FOXRED1
FAD dependent oxidoreductase domain containing 1 0.633 0.462 2.0E-16
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.420 moderate 1.000 6 0 2010 2019
Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC
leucine rich pentatricopeptide repeat containing 0.493 0.769 2.3E-10
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.400 definitive 1.000 8 0 2001 2017
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: 4723
Gene Symbol: NDUFV1
NDUFV1
NADH:ubiquinone oxidoreductase core subunit V1 0.617 0.538 6.4E-11
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.330 definitive 1.000 10 0 2001 2019
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: 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
Entrez Id: 85476
Gene Symbol: GFM1
GFM1
G elongation factor mitochondrial 1 0.623 0.692 9.3E-13
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.310 moderate 1.000 6 0 2007 2017