Gene: SCO2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064792889
rs1064792889
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792890
rs1064792890
TYMP ; SCO2
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
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792892
rs1064792892
TYMP ; SCO2
TT 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
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: rs121913036
rs121913036
TYMP ; SCO2
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
G 0.700 CausalMutation CLINVAR Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction. 19344718

2009
dbSNP: rs121913036
rs121913036
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
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: rs121913039
rs121913039
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. 16178026

2005
dbSNP: rs121913039
rs121913039
TYMP ; SCO2
T 0.700 GeneticVariation CLINVAR

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

2005
dbSNP: rs121913040
rs121913040
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs121913040
rs121913040
TYMP ; SCO2
A 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs121913041
rs121913041
TYMP ; SCO2
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
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: rs1471478620
rs1471478620
TYMP ; SCO2
AG 0.700 GeneticVariation CLINVAR

dbSNP: rs149977726
rs149977726
TYMP ; SCO2
C 0.800 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs1556486029
rs1556486029
TYMP ; SCO2
TG 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs1556486107
rs1556486107
TYMP ; SCO2
GC 0.700 CausalMutation CLINVAR

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

2004
dbSNP: rs1556488264
rs1556488264
TYMP ; SCO2
C 0.700 CausalMutation CLINVAR

dbSNP: rs201685922
rs201685922
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. 10852545

2000