Annotation Detail
Information
- Associated Genes
- NTRK1
- Associated Variants
-
RET p.Met918Thr (p.M918T)
(
ENST00000340058.6,
ENST00000713926.1,
ENST00000355710.8,
ENST00000615310.5 )
RET p.Met918Thr (p.M918T) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- multiple endocrine neoplasia type 2B
- Source Database
- DisGeNET
- Description
- A single RET mutation, resulting in the substitution M918T, has been identified in 94% of cases of MEN 2B (which consists of MTC, pheochromocytoma and developmental abnormalities).
- Pubmed
- 9294615
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 1997
Drugs