SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
Disease: Mitochondrial DNA Depletion Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064792868
rs1064792868
Entrez Id: 1890;9997
Gene Symbol: TYMP;SCO2
TYMP;SCO2
CUI: C4551995
Disease:
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation. 15742109 2005