rs866001342
|
|
Mitochondrial DNA Depletion Syndrome 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
|
15781193 |
2005 |
rs1064792888
|
|
Mitochondrial DNA Depletion Syndrome 1
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
|
15781193 |
2005 |
rs1064792876
|
|
Mitochondrial DNA Depletion Syndrome 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
|
15781193 |
2005 |
rs1064792873
|
|
Mitochondrial DNA Depletion Syndrome 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
|
15781193 |
2005 |
rs149977726
|
|
Mitochondrial DNA Depletion Syndrome 1
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
9924029 |
1999 |
rs797044455
|
|
Mitochondrial DNA Depletion Syndrome 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
9924029 |
1999 |
rs786205098
|
|
Mitochondrial DNA Depletion Syndrome 1
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
9924029 |
1999 |
rs773785934
|
|
Mitochondrial DNA Depletion Syndrome 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
9924029 |
1999 |
rs1556486029
|
|
Mitochondrial DNA Depletion Syndrome 1
|
TG |
0.700 |
CausalMutation
|
CLINVAR |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
9924029 |
1999 |
rs121913036
|
|
Mitochondrial DNA Depletion Syndrome 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
9924029 |
1999 |
rs121913036
|
|
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 |
rs1064792881
|
|
Mitochondrial DNA Depletion Syndrome 1
|
AGCCGTCGTCCAGCGCCGC |
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic variability in a Spanish family with MNGIE.
|
12177387 |
2002 |
rs1064792887
|
|
Mitochondrial DNA Depletion Syndrome 1
|
C |
0.700 |
CausalMutation
|
CLINVAR |
MNGIE: diarrhea and leukoencephalopathy.
|
12084896 |
2002 |
rs121913036
|
|
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 |
rs946234163
|
|
Mitochondrial DNA Depletion Syndrome 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
|
10852545 |
2000 |
rs797044455
|
|
Mitochondrial DNA Depletion Syndrome 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
|
10852545 |
2000 |
rs201685922
|
|
Mitochondrial DNA Depletion Syndrome 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
|
10852545 |
2000 |
rs1064792865
|
|
Mitochondrial DNA Depletion Syndrome 1
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
|
10852545 |
2000 |
rs892141220
|
|
Mitochondrial DNA Depletion Syndrome 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
|
14720311 |
2004 |
rs1556486467
|
|
Mitochondrial DNA Depletion Syndrome 1
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
|
14720311 |
2004 |
rs1064792874
|
|
Mitochondrial DNA Depletion Syndrome 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
|
14720311 |
2004 |
rs1064792870
|
|
Mitochondrial DNA Depletion Syndrome 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
|
14720311 |
2004 |
rs1064792866
|
|
Mitochondrial DNA Depletion Syndrome 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
|
14720311 |
2004 |
rs121913042
|
|
Mitochondrial DNA Depletion Syndrome 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
|
16178026 |
2005 |
rs121913041
|
|
Mitochondrial DNA Depletion Syndrome 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
|
16178026 |
2005 |