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: rs797044455
rs797044455
Entrez Id: 1890;9997
Gene Symbol: TYMP;SCO2
TYMP;SCO2
CUI: C4551995
Disease:
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. 10852545 2000
dbSNP: rs797044455
rs797044455
Entrez Id: 1890;9997
Gene Symbol: TYMP;SCO2
TYMP;SCO2
CUI: C4551995
Disease:
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029 1999