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
On the other hand, our results indicate that alterations in the functional coupling between the prefrontal cortex and the medial temporal lobe could represent a neural system phenotype that is mediated by CACNA1C rs1006737 and other genetic susceptibility loci for schizophrenia and bipolar disorder.
Pubmed
23404764
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.134972910226135
Year of publication
2012
Drugs