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: 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 2 0 2010 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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 2 0 2010 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: 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: 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: 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 2 0 2007 2019
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