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: 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: 4694
Gene Symbol: NDUFA1
NDUFA1
NADH:ubiquinone oxidoreductase subunit A1 0.636 0.423 0.55
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.330 strong 1.000 2 0 1988 2017
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: 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: 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: 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: 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: 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: 79133
Gene Symbol: NDUFAF5
NDUFAF5
NADH:ubiquinone oxidoreductase complex assembly factor 5 0.674 0.462 3.1E-10
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.320 strong 1.000 2 0 2008 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: 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: 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: 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: 55572
Gene Symbol: FOXRED1
FOXRED1
FAD dependent oxidoreductase domain containing 1 0.633 0.462 2.0E-16
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.510 strong 1.000 1 0 2010 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: 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: 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: 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: 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: 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: 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: 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: 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