Annotation Detail
Information
- Associated Genes
- CACNA1C
- Associated Variants
-
CACNA1C c.477+115699G>A
(
ENST00000682686.1,
ENST00000399621.5,
ENST00000399638.5,
ENST00000399601.5,
ENST00000406454.8,
ENST00000344100.7,
ENST00000402845.7,
ENST00000683956.1,
ENST00000399644.5,
ENST00000682544.1,
ENST00000682835.1,
ENST00000399655.6,
ENST00000399649.5,
ENST00000683482.1,
ENST00000347598.9,
ENST00000399597.5,
ENST00000683840.1,
ENST00000335762.10,
ENST00000683824.1,
ENST00000399634.6,
ENST00000327702.12,
ENST00000399629.5,
ENST00000683781.1,
ENST00000399595.5,
ENST00000399591.5,
ENST00000399637.5,
ENST00000682336.1,
ENST00000399617.6,
ENST00000399641.6,
ENST00000399603.6,
ENST00000682462.1,
ENST00000399606.5 )
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 )
CACNA1C c.477+115699G>A ( ENST00000327702.12, ENST00000335762.10, ENST00000344100.7, ENST00000347598.9, ENST00000399591.5, ENST00000399595.5, ENST00000399597.5, ENST00000399601.5, ENST00000399603.6, ENST00000399606.5, ENST00000399617.6, ENST00000399621.5, ENST00000399629.5, ENST00000399634.6, ENST00000399637.5, ENST00000399638.5, ENST00000399641.6, ENST00000399644.5, ENST00000399649.5, ENST00000399655.6, ENST00000402845.7, ENST00000406454.8, ENST00000682336.1, ENST00000682462.1, ENST00000682544.1, ENST00000682686.1, ENST00000682835.1, ENST00000683482.1, ENST00000683781.1, ENST00000683824.1, ENST00000683840.1, ENST00000683956.1 )
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
- Unipolar Depression
- Source Database
- DisGeNET
- Description
- Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (ADCY3, 2p23.3) and galanin (GAL, 11q13.3); published functional evidence relates both of these to MDD and serotonergic signaling; (b) support for the bipolar disorder risk variant SNP rs1006737 in CACNA1C (P=0.020, odds ratio=1.10); and (c) lack of support for rs2251219, a SNP identified in a meta-analysis of affective disorder studies (P=0.51).
- Pubmed
- 21042317
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00298586059288334
- Year of publication
- 2012
Drugs