Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064792878
rs1064792878
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 CausalMutation CLINVAR Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 19056268

2009
dbSNP: rs1064792879
rs1064792879
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 CausalMutation CLINVAR Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. 12529715

2003
dbSNP: rs1064792881
rs1064792881
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		AGCCGTCGTCCAGCGCCGC 0.700 CausalMutation CLINVAR Phenotypic variability in a Spanish family with MNGIE. 12177387

2002
dbSNP: rs1064792885
rs1064792885
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		GA 0.700 CausalMutation CLINVAR Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). 19748572

2009
dbSNP: rs1064792887
rs1064792887
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		C 0.700 CausalMutation CLINVAR MNGIE: diarrhea and leukoencephalopathy. 12084896

2002
dbSNP: rs1064792888
rs1064792888
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		A 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. 15781193

2005
dbSNP: rs1064792889
rs1064792889
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792890
rs1064792890
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE. 16198108

2005
dbSNP: rs1064792891
rs1064792891
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792892
rs1064792892
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		TT 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs11479
rs11479
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 CausalMutation CLINVAR Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. 17437622

2007
dbSNP: rs121908508
rs121908508
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913036
rs121913036
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
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
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
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
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
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
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
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
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs121913039
rs121913039
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 CausalMutation CLINVAR Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. 16178026

2005
dbSNP: rs121913039
rs121913039
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913040
rs121913040
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs121913040
rs121913040
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		A 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs121913040
rs121913040
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. 16178026

2005
dbSNP: rs121913041
rs121913041
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 CausalMutation CLINVAR Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). 19748572

2009
dbSNP: rs121913041
rs121913041
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. 16178026

2005
dbSNP: rs121913042
rs121913042
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. 16178026

2005