×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Mitochondrial DNA Depletion Syndrome 1
0.400
GeneticVariation
CLINVAR
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Mitochondrial DNA Depletion Syndrome 1
0.400
CausalMutation
CLINVAR
×
Entrez Id:
4566
Gene Symbol:
TRNK
TRNK
Mitochondrial DNA Depletion Syndrome 1
0.100
CausalMutation
CLINVAR
×
Entrez Id:
1890
Gene Symbol:
TYMP
TYMP
Mitochondrial DNA Depletion Syndrome 1
0.700
CausalMutation
CLINVAR
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
9924029
1999
×
Entrez Id:
9997
Gene Symbol:
SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100
CausalMutation
CLINVAR
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
9924029
1999
×
Entrez Id:
1890
Gene Symbol:
TYMP
TYMP
Mitochondrial DNA Depletion Syndrome 1
0.700
CausalMutation
CLINVAR
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
10852545
2000
×
Entrez Id:
9997
Gene Symbol:
SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100
CausalMutation
CLINVAR
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
10852545
2000
×
Entrez Id:
1890
Gene Symbol:
TYMP
TYMP
Mitochondrial DNA Depletion Syndrome 1
0.700
CausalMutation
CLINVAR
MNGIE: diarrhea and leukoencephalopathy.
12084896
2002
×
Entrez Id:
1890
Gene Symbol:
TYMP
TYMP
Mitochondrial DNA Depletion Syndrome 1
0.700
CausalMutation
CLINVAR
Phenotypic variability in a Spanish family with MNGIE.
12177387
2002
×
Entrez Id:
9997
Gene Symbol:
SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100
CausalMutation
CLINVAR
Phenotypic variability in a Spanish family with MNGIE.
12177387
2002
×
Entrez Id:
1890
Gene Symbol:
TYMP
TYMP
Mitochondrial DNA Depletion Syndrome 1
0.700
CausalMutation
CLINVAR
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
12529715
2003
×
Entrez Id:
9997
Gene Symbol:
SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100
CausalMutation
CLINVAR
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
12529715
2003
×
Entrez Id:
1890
Gene Symbol:
TYMP
TYMP
Mitochondrial DNA Depletion Syndrome 1
0.700
CausalMutation
CLINVAR
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
14720311
2004
×
Entrez Id:
1890
Gene Symbol:
TYMP
TYMP
Mitochondrial DNA Depletion Syndrome 1
0.700
CausalMutation
CLINVAR
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.
14757860
2004
×
Entrez Id:
1890
Gene Symbol:
TYMP
TYMP
Mitochondrial DNA Depletion Syndrome 1
0.700
CausalMutation
CLINVAR
Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE.
15505189
2004
×
Entrez Id:
9997
Gene Symbol:
SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100
CausalMutation
CLINVAR
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
14720311
2004
×
Entrez Id:
1890
Gene Symbol:
TYMP
TYMP
Mitochondrial DNA Depletion Syndrome 1
0.700
CausalMutation
CLINVAR
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
15781193
2005
×
Entrez Id:
1890
Gene Symbol:
TYMP
TYMP
Mitochondrial DNA Depletion Syndrome 1
0.700
CausalMutation
CLINVAR
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
16178026
2005
×
Entrez Id:
1890
Gene Symbol:
TYMP
TYMP
Mitochondrial DNA Depletion Syndrome 1
0.700
CausalMutation
CLINVAR
Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation.
15742109
2005
×
Entrez Id:
1890
Gene Symbol:
TYMP
TYMP
Mitochondrial DNA Depletion Syndrome 1
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
×
Entrez Id:
9997
Gene Symbol:
SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100
CausalMutation
CLINVAR
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
15781193
2005
×
Entrez Id:
9997
Gene Symbol:
SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100
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
×
Entrez Id:
1890
Gene Symbol:
TYMP
TYMP
Mitochondrial DNA Depletion Syndrome 1
0.700
CausalMutation
CLINVAR
Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features.
17294068
2007
×
Entrez Id:
1890
Gene Symbol:
TYMP
TYMP
Mitochondrial DNA Depletion Syndrome 1
0.700
CausalMutation
CLINVAR
Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation.
17437622
2007
×
Entrez Id:
9997
Gene Symbol:
SCO2
SCO2
Mitochondrial DNA Depletion Syndrome 1
0.100
CausalMutation
CLINVAR
Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation.
17437622
2007