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
- pheochromocytoma
- Source Database
- DisGeNET
- Description
- Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.
- Pubmed
- 12000816
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.604771992525671
- Year of publication
- 2002
Drugs