Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Tyr791Phe (p.Y791F)
(
ENST00000355710.8,
ENST00000615310.5,
ENST00000340058.6,
ENST00000713926.1 )
RET p.Tyr791Phe (p.Y791F) ( ENST00000615310.5, ENST00000713926.1, ENST00000340058.6, ENST00000355710.8 ) - Associated Disease
- familial medullary thyroid carcinoma
- Source Database
- DisGeNET
- Description
- Germ-line mutations in nonsyndromic pheochromocytoma.
- Pubmed
- 12000816
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.521802048300367
- Year of publication
- 2002
Drugs