Annotation Detail

Information
Associated Genes
CACNA1C
Associated Variants
rs10994359 ( ENST00000373827.6, ENST00000503366.6 )
CACNA1C c.477+119988G>C ( ENST00000399637.5, ENST00000682336.1, ENST00000399617.6, ENST00000399603.6, ENST00000682462.1, ENST00000399641.6, ENST00000399606.5, ENST00000335762.10, ENST00000399634.6, ENST00000683824.1, ENST00000327702.12, ENST00000399629.5, ENST00000399595.5, ENST00000683781.1, ENST00000399591.5, ENST00000399644.5, ENST00000682544.1, ENST00000682835.1, ENST00000399655.6, ENST00000347598.9, ENST00000399649.5, ENST00000683482.1, ENST00000399597.5, ENST00000683840.1, ENST00000682686.1, ENST00000399621.5, ENST00000399638.5, ENST00000399601.5, ENST00000406454.8, ENST00000402845.7, ENST00000683956.1, ENST00000344100.7 )
ITIH4 c.1540-83A>G, ENSG00000243696 c.*1672-83A>G ( ENST00000266041.9, ENST00000406595.5, ENST00000485816.5 )
rs10994359 ( ENST00000373827.6, ENST00000503366.6 )
CACNA1C c.477+119988G>C ( 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 )
ITIH4 c.1540-83A>G, ENSG00000243696 c.*1672-83A>G ( ENST00000266041.9, ENST00000406595.5, ENST00000485816.5 )
Associated Disease
Nonorganic psychosis
Source Database
DisGeNET
Description
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psychosis spectrum disorders, and associations with the joint genetic risk variants for BD and SCZ (rs2239547 (ITIH3/4-region), rs10994359 (ANK3) and rs4765905 (CACNA1C)) were investigated.
Pubmed
24461634
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00135720936040152
Year of publication
2013
Drugs