SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937868
rs28937868
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 GeneticVariation UNIPROT
dbSNP: rs28937868
rs28937868
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		T 0.800 CausalMutation CLINVAR