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: 91647
Gene Symbol: ATPAF2
ATPAF2
ATP synthase mitochondrial F1 complex assembly factor 2 0.729 0.423 2.2E-09
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 strong 1.000 2 0 2010 2016
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: 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: 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: 4726
Gene Symbol: NDUFS6
NDUFS6
NADH:ubiquinone oxidoreductase subunit S6 0.686 0.423 9.6E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 strong 1.000 1 0 2016 2016
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: 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: 51204
Gene Symbol: TACO1
TACO1
translational activator of cytochrome c oxidase I 0.647 0.577 1.5E-03
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 strong 1.000 1 0 2016 2016
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: 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: 644096
Gene Symbol: SDHAF1
SDHAF1
succinate dehydrogenase complex assembly factor 1 0.656 0.462 8.7E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 7381
Gene Symbol: UQCRB
UQCRB
ubiquinol-cytochrome c reductase binding protein 0.736 0.308 1.6E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 strong 1.000 1 0 2013 2013
Entrez Id: 84701
Gene Symbol: COX4I2
COX4I2
cytochrome c oxidase subunit 4I2 0.716 0.500 1.4E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 limited 1.000 1 0 2012 2012
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: 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: 4705
Gene Symbol: NDUFA10
NDUFA10
NADH:ubiquinone oxidoreductase subunit A10 0.678 0.385 6.2E-08
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: 1355
Gene Symbol: COX15
COX15
cytochrome c oxidase assembly homolog COX15 0.638 0.538 1.1E-13
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: 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: 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
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: 4695
Gene Symbol: NDUFA2
NDUFA2
NADH:ubiquinone oxidoreductase subunit A2 0.617 0.577 0.77
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 4702
Gene Symbol: NDUFA8
NDUFA8
NADH:ubiquinone oxidoreductase subunit A8 1.000 0.077 0.34
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 limited 1.000 1 0 2004 2004
Entrez Id: 126328
Gene Symbol: NDUFA11
NDUFA11
NADH:ubiquinone oxidoreductase subunit A11 0.705 0.308 1.8E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 strong 1.000 1 0 2016 2016