Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.450 Biomarker disease CTD_human Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.450 GeneticVariation disease 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
0.450 Biomarker disease HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.450 Biomarker disease BEFREE Here, we use egl-19, the C. elegans homolog of CACNA1C, to investigate the role of voltage-gated calcium channels in autism. 31805042 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.450 GeneticVariation disease BEFREE Additionally, a gain-of-function mutation in CACNA1C is responsible for the neurodevelopmental disorder Timothy syndrome that presents with prominent behavioral features on the autism spectrum. 28921675 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.450 GeneticVariation disease 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
0.450 Biomarker disease BEFREE To investigate the association between single nucleotide polymorphisms (SNP) in CACNA1C and autism, we first performed a family-based association study between eighteen SNPs in CACNA1C and autism in 239 trios. 26204268 2015