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
SCO2, cytochrome c oxidase assembly protein 0.648 0.414 6.8E-07
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
disease 0.700 9 7 1999 2016
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
SCO2, cytochrome c oxidase assembly protein 0.648 0.414 6.8E-07
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
disease 0.600 6 3 1999 2016
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
SCO2, cytochrome c oxidase assembly protein 0.648 0.414 6.8E-07
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
disease 0.100 13 44 1993 2013
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
SCO2, cytochrome c oxidase assembly protein 0.648 0.414 6.8E-07
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.100 1 1 2010 2010
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
SCO2, cytochrome c oxidase assembly protein 0.648 0.414 6.8E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 1 2015 2015
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
SCO2, cytochrome c oxidase assembly protein 0.648 0.414 6.8E-07
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation
phenotype 0.100 1 1 2015 2015