Source: CURATED

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: 4843
Gene Symbol: NOS2
NOS2
nitric oxide synthase 2 0.364 0.923 4.0E-15
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 None 1.000 1 0 2006 2006
Entrez Id: 6648
Gene Symbol: SOD2
SOD2
superoxide dismutase 2 0.379 0.923 0.15
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.310 None 1.000 1 0 1999 2001
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.340 None 1.000 2 0 2012 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.500 None 0.957 1 6 2003 2020
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
succinate dehydrogenase complex subunit C 0.517 0.846 2.0E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.350 strong 1.000 1 0 1999 2016
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
NADH:ubiquinone oxidoreductase subunit S4 0.587 0.808 3.1E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.330 strong 1.000 1 0 2016 2019
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.330 strong 1.000 1 0 2007 2019
Entrez Id: 8996
Gene Symbol: NOL3
NOL3
nucleolar protein 3 0.575 0.808 2.0E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 None 1.000 1 0 2009 2009
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
synthesis of cytochrome C oxidase 1 0.638 0.769 2.2E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.520 strong 1.000 2 0 2007 2019
Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC
leucine rich pentatricopeptide repeat containing 0.493 0.769 2.3E-10
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
NADH:ubiquinone oxidoreductase core subunit S7 0.579 0.769 0.91
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
NADH:ubiquinone oxidoreductase core subunit S3 0.581 0.769 5.8E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 22868
Gene Symbol: FASTKD2
FASTKD2
FAST kinase domains 2 0.659 0.731 2.9E-06
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
NADH:ubiquinone oxidoreductase core subunit S1 0.595 0.692 6.6E-11
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 51079
Gene Symbol: NDUFA13
NDUFA13
NADH:ubiquinone oxidoreductase subunit A13 0.556 0.692 3.8E-06
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 54949
Gene Symbol: SDHAF2
SDHAF2
succinate dehydrogenase complex assembly factor 2 0.604 0.692 2.8E-06
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 1352
Gene Symbol: COX10
COX10
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 0.623 0.654 8.4E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.320 strong 1.000 1 0 2013 2017
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
NADH:ubiquinone oxidoreductase core subunit S2 0.601 0.654 1.4E-03
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
transmembrane protein 70 0.636 0.654 2.9E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.330 strong 1.000 1 0 2010 2016
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
SURF1 cytochrome c oxidase assembly factor 0.578 0.654 1.6E-13
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.350 strong 1.000 1 0 1998 2016
Entrez Id: 1340
Gene Symbol: COX6B1
COX6B1
cytochrome c oxidase subunit 6B1 0.700 0.577 0.12
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.320 strong 1.000 1 0 2009 2017
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 None 1.000 1 0 2009 2009