Annotation Detail
Information
- Associated Genes
- PBRM1
- Associated Variants
-
PBRM1 p.Pro1552= (p.P1552=)
(
ENST00000296302.11,
ENST00000337303.8,
ENST00000356770.8,
ENST00000394830.7,
ENST00000409057.5,
ENST00000409114.7,
ENST00000409767.5,
ENST00000410007.5,
ENST00000707071.1,
ENST00000476842.1 )
PBRM1 p.Pro1552= (p.P1552=) ( ENST00000356770.8, ENST00000394830.7, ENST00000409057.5, ENST00000409114.7, ENST00000409767.5, ENST00000410007.5, ENST00000707071.1, ENST00000476842.1, ENST00000296302.11, ENST00000337303.8 ) - Associated Disease
- MAJOR AFFECTIVE DISORDER 8
- Source Database
- DisGeNET
- Description
- Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybromo 1 (PBRM1), have been implicated in susceptibility to bipolar affective disorder (BP) through genome-wide association studies.
- Pubmed
- 22560537
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2012
Drugs