Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Gly691Ser (p.G691S)
(
ENST00000713926.1,
ENST00000355710.8,
ENST00000340058.6,
ENST00000615310.5 )
RET p.Gly691Ser (p.G691S) ( ENST00000615310.5, ENST00000340058.6, ENST00000355710.8, ENST00000713926.1 ) - Associated Disease
- multiple endocrine neoplasia type 2A
- Source Database
- DisGeNET
- Description
- In 46 cases of sporadic MTCs, we also studied the cosegregation of somatic RET gene mutation and G691S polymorphism as well as the linkage of the polymorphism with RET germline mutation in 60 members of eight multiple endocrine neoplasia type 2 families.
- Pubmed
- 15240649
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.613995490717024
- Year of publication
- 2004
Drugs