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: rs121913036
rs121913036
Entrez Id: 1890;9997
Gene Symbol: TYMP;SCO2
TYMP;SCO2
CUI: C4551995
Disease:
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation. 23430799 2013
dbSNP: rs121913036
rs121913036
Entrez Id: 1890;9997
Gene Symbol: TYMP;SCO2
TYMP;SCO2
CUI: C4551995
Disease:
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. 23341816 2012
dbSNP: rs121913036
rs121913036
Entrez Id: 1890;9997
Gene Symbol: TYMP;SCO2
TYMP;SCO2
CUI: C4551995
Disease:
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome. 20151198 2010
dbSNP: rs121913036
rs121913036
Entrez Id: 1890;9997
Gene Symbol: TYMP;SCO2
TYMP;SCO2
CUI: C4551995
Disease:
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction. 19344718 2009
dbSNP: rs121913036
rs121913036
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