Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Ser891Ala (p.S891A)
(
ENST00000355710.8,
ENST00000340058.6,
ENST00000615310.5,
ENST00000713926.1 )
RET p.Ser891Ala (p.S891A) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- multiple endocrine neoplasia type 2A
- Source Database
- DisGeNET
- Description
- The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET mutation S891A.
- Pubmed
- 20554711
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.613995490717024
- Year of publication
- 2010
Drugs