CACNA1C risk_factor_for Timothy syndrome
Evidence from:
primary |
all sources
Evidence (3 sources)
gain-of-function mutations in the LTCCs-encoding CACNA1C gene lead to Timothy syndrome
confidence: 0.95
Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk.
(2009)
PMID:19065143
cited
mutations in this gene are already known to cause Timothy Syndrome
confidence: 0.90
Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk.
(2009)
PMID:19065143
cited
mutations in this gene are already known to cause Timothy Syndrome
confidence: 0.95