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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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
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: 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: 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: 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: 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: 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: 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: 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: 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