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
schizophrenia
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 over-represented in patients with psychosis, including schizophrenia, bipolar disorder and major depressive disorder.
Pubmed
21078228
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.134972910226135
Year of publication
2011
Drugs