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: 1352
Gene Symbol: COX10
COX10
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 0.623 0.654 8.4E-02
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease 0.940 None 1.000 2 0 1999 2016
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
synthesis of cytochrome C oxidase 1 0.638 0.769 2.2E-04
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease 0.940 None 1.000 2 0 2000 2013
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease 0.750 None 1.000 1 0 1997 2016
Entrez Id: 84334
Gene Symbol: COA8
COA8
cytochrome c oxidase assembly factor 8 0.682 0.538 2.1E-04
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease 0.720 None 1.000 1 0 2014 2019
Entrez Id: 116228
Gene Symbol: COX20
COX20
cytochrome c oxidase assembly factor COX20 0.705 0.538 2.0E-02
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease 0.710 None 1.000 1 0 2013 2018
Entrez Id: 84987
Gene Symbol: COX14
COX14
cytochrome c oxidase assembly factor COX14 0.705 0.577 0.36
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease 0.700 None 1.000 2 0 2012 2016
Entrez Id: 1340
Gene Symbol: COX6B1
COX6B1
cytochrome c oxidase subunit 6B1 0.700 0.577 0.12
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease 0.700 None 1.000 1 0 2008 2016
Entrez Id: 100131801
Gene Symbol: PET100
PET100
PET100 cytochrome c oxidase chaperone 0.650 0.577 3.6E-04
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease 0.620 None 1.000 3 0 2013 2015
Entrez Id: 22868
Gene Symbol: FASTKD2
FASTKD2
FAST kinase domains 2 0.659 0.731 2.9E-06
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease 0.610 None 1.000 2 0 2008 2017
Entrez Id: 51204
Gene Symbol: TACO1
TACO1
translational activator of cytochrome c oxidase I 0.647 0.577 1.5E-03
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease 0.600 None 1.000 2 0 2009 2016
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
SURF1 cytochrome c oxidase assembly factor 0.578 0.654 1.6E-13
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease 0.500 None 1.000 1 0 1998 2016
Entrez Id: 1355
Gene Symbol: COX15
COX15
cytochrome c oxidase assembly homolog COX15 0.638 0.538 1.1E-13
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease 0.330 None 1.000 0 0 2003 2005
Entrez Id: 107075310
Gene Symbol: MTCO2P12
MTCO2P12
MT-CO2 pseudogene 12 0.368 0.962
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease 0.330 strong 1.000 0 0 1999 2011
Entrez Id: 493753
Gene Symbol: COA5
COA5
cytochrome c oxidase assembly factor 5 0.821 0.192 1.8E-02
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease 0.320 None 0.333 1 0 2004 2016
Entrez Id: 4697
Gene Symbol: NDUFA4
NDUFA4
NDUFA4 mitochondrial complex associated 0.695 0.462 2.4E-02
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease 0.300 strong 1.000 1 0 2018 2018