| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. | 21933806 | 2011 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. | 12529715 | 2003 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. | 9924029 | 1999 |
|||
|
AG | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. | 9924029 | 1999 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. | 9924029 | 1999 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. | 10852545 | 2000 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. | 15781193 | 2005 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. | 14720311 | 2004 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. | 10852545 | 2000 |