Gene: SCO2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913036
rs121913036
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome. 20151198

2010
dbSNP: rs121913036
rs121913036
TYMP ; SCO2
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: rs121913040
rs121913040
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. 16178026

2005
dbSNP: rs121913041
rs121913041
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. 16178026

2005
dbSNP: rs121913042
rs121913042
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. 16178026

2005
dbSNP: rs761665644
rs761665644
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR

dbSNP: rs764275775
rs764275775
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs797044455
rs797044455
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs892141220
rs892141220
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 14720311

2004
dbSNP: rs1064792885
rs1064792885
TYMP ; SCO2
GA 0.700 CausalMutation CLINVAR Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). 19748572

2009
dbSNP: rs1556486467
rs1556486467
TYMP ; SCO2
GA 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 14720311

2004
dbSNP: rs1556486107
rs1556486107
TYMP ; SCO2
GC 0.700 CausalMutation CLINVAR

dbSNP: rs1060499534
rs1060499534
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1060499535
rs1060499535
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). 19748572

2009
dbSNP: rs1064792869
rs1064792869
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792872
rs1064792872
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792873
rs1064792873
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. 15781193

2005
dbSNP: rs1064792874
rs1064792874
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 14720311

2004
dbSNP: rs1064792875
rs1064792875
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064792876
rs1064792876
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. 15781193

2005
dbSNP: rs1064792878
rs1064792878
TYMP ; SCO2
T 0.700 GeneticVariation CLINVAR Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 19056268

2009
dbSNP: rs1064792878
rs1064792878
TYMP ; SCO2
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
T 0.700 CausalMutation CLINVAR Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. 12529715

2003
dbSNP: rs11479
rs11479
TYMP ; SCO2
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: rs121913039
rs121913039
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. 16178026

2005