Annotation Detail
Information
- Associated Genes
- AIP
- Associated Variants
-
AIP p.Arg271Trp (p.R271W)
(
ENST00000682659.1,
ENST00000684657.1,
ENST00000683856.1,
ENST00000528641.7,
ENST00000683237.1,
ENST00000684006.1,
ENST00000279146.8 )
AIP p.Arg271Trp (p.R271W) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 ) - Associated Disease
- pituitary adenoma
- Source Database
- DisGeNET
- Description
- This kindred exemplifies the aggressive features of pituitary adenomas associated with AIP mutations, while genetic analyses among three R271W FIPA families indicate that R271W represents a mutational hotspot that should be studied further in functional studies.
- Pubmed
- 19684062
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0133006517319349
- Year of publication
- 2009
Drugs