Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.330 GeneticVariation group BEFREE Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism. 26204268 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.330 GeneticVariation group BEFREE The gene families and genetic lesions underlying familial hemiplegic migraine, FHM1/CACNA1A, FHM2/ATP1A2, and FHM3/SCN1A, and monogenic mitochondrial migraine syndromes, provide a robust platform from which genes, such as CACNA1C, which encodes the calcium channel mutated in Timothy syndrome, can be evaluated for their role in autism and bipolar disease. 19154521 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.330 GeneticVariation group BEFREE Previous studies implicate CACNA1C (L-type Ca(V)1.2) calcium channel mutations in a disorder associated with autism (Timothy syndrome). 16754686 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.330 Biomarker group CTD_human Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078 2004