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 )
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 )
Associated Disease
bipolar disorder
Source Database
DisGeNET
Description
Recent genetic studies found the A allele of the variant rs1006737 in the alpha 1C subunit of the L-type voltage-gated calcium channel (CACNA1C) gene to be overrepresented in patients suffering from bipolar disorder, schizophrenia or major depression.
Pubmed
19781653
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.269598433710069
Year of publication
2010
Drugs