Annotation Detail
Information
- Associated Genes
- AHR
- Associated Variants
-
AHR p.Arg554Lys (p.R554K)
(
ENST00000242057.9,
ENST00000642825.1 )
AHR p.Arg554Lys (p.R554K) ( ENST00000242057.9, ENST00000642825.1 ) - Associated Disease
- acromegaly
- Source Database
- DisGeNET
- Description
- Increased frequency of the rs2066853 variant of aryl hydrocarbon receptor gene in patients with acromegaly.
- Pubmed
- 24521362
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs