rs121913036, SCO2;TYMP

N. diseases: 1
Disease: Mitochondrial DNA Depletion Syndrome 1 ×
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mitochondrial DNA Depletion Syndrome 1
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
0.700 CausalMutation CLINVAR MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation. 23430799 2013
Mitochondrial DNA Depletion Syndrome 1
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
0.700 CausalMutation CLINVAR Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. 23341816 2012
Mitochondrial DNA Depletion Syndrome 1
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
0.700 CausalMutation CLINVAR Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome. 20151198 2010
Mitochondrial DNA Depletion Syndrome 1
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
0.700 CausalMutation CLINVAR Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction. 19344718 2009
Mitochondrial DNA Depletion Syndrome 1
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029 1999