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: 4731
Gene Symbol: NDUFV3
NDUFV3
NADH:ubiquinone oxidoreductase subunit V3 0.890 0.154 2.8E-18
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 limited 0 0
Entrez Id: 1327
Gene Symbol: COX4I1
COX4I1
cytochrome c oxidase subunit 4I1 0.691 0.500 0.39
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 limited 0 0
Entrez Id: 4725
Gene Symbol: NDUFS5
NDUFS5
NADH:ubiquinone oxidoreductase subunit S5 2.6E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 limited 0 0
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: 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: 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: 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: 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: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.330 None 1.000 1 0 2013 2018
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: 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: 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: 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: 4728
Gene Symbol: NDUFS8
NDUFS8
NADH:ubiquinone oxidoreductase core subunit S8 0.636 0.538 0.17
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.310 strong 1.000 1 0 2016 2018
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
NADH:ubiquinone oxidoreductase core subunit V1 0.617 0.538 6.4E-11
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.310 strong 1.000 1 0 2013 2016
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
tetratricopeptide repeat domain 19 0.663 0.385 1.4E-08
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.310 strong 1.000 1 0 2016 2018
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1
NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.310 strong 1.000 1 0 2007 2016
Entrez Id: 29078
Gene Symbol: NDUFAF4
NDUFAF4
NADH:ubiquinone oxidoreductase complex assembly factor 4 0.686 0.385 0.55
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.310 strong 1.000 1 0 2009 2016
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: 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: 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: 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: 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: 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: 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