Annotation Detail
Information
- Associated Genes
- AIP
- Associated Variants
-
AIP p.Arg81Ter (p.R81*)
(
ENST00000528641.7,
ENST00000683856.1,
ENST00000682659.1,
ENST00000684657.1,
ENST00000684006.1,
ENST00000279146.8,
ENST00000683237.1 )
AIP p.Arg81Ter (p.R81*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 ) - Associated Disease
- PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
- Source Database
- DisGeNET
- Description
- Genetic analysis in a patient presenting with meningioma and familial isolated pituitary adenoma (FIPA) reveals selective involvement of the R81X mutation of the AIP gene in the pathogenesis of the pituitary tumor.
- Pubmed
- 22527616
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00488595369744546
- Year of publication
- 2012
Drugs