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: 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: 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: 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: 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: 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: 80224
Gene Symbol: NUBPL
NUBPL
nucleotide binding protein like 0.670 0.423 1.1E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.510 strong 1.000 1 0 2010 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: 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: 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: 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: 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: 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 1 0 2007 2019
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: 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: 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: 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: 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