Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
|
19748572 |
2009 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
|
15781193 |
2005 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
MNGIE: diarrhea and leukoencephalopathy.
|
12084896 |
2002 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
|
16178026 |
2005 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
|
19056268 |
2009 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
|
12529715 |
2003 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.
|
23341816 |
2012 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.
|
19344718 |
2009 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
|
21933806 |
2011 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
|
14720311 |
2004 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome.
|
20151198 |
2010 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic variability in a Spanish family with MNGIE.
|
12177387 |
2002 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
9924029 |
1999 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
|
10852545 |
2000 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features.
|
17294068 |
2007 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
9924029 |
1999 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.
|
14757860 |
2004 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE.
|
15505189 |
2004 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Phenotypic variability in a Spanish family with MNGIE.
|
12177387 |
2002 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation.
|
23430799 |
2013 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
|
19056268 |
2009 |
Entrez Id: |
1890 |
Gene Symbol: |
TYMP |
TYMP
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
|
16178026 |
2005 |