Source: CLINVAR

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: 9997
Gene Symbol: SCO2
SCO2
synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
Mitochondrial DNA Depletion Syndrome 1
disease 0.100 None 1.000 11 50 1999 2011
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
disease 0.700 strong 1.000 0 2 2013 2016
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
disease 0.700 None 1.000 0 7 1999 2016
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype 0.100 None 0 1
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.100 None 1.000 1 1 2010 2010