Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174 2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478 2015
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. 25758715 2015
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. 23441182 2013
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR The International Classification of Headache Disorders, 3rd edition (beta version). 23771276 2013
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine. 23831250 2013
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS. 22249839 2012
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil. 21183743 2011
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717 2010
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 20129625 2010
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration. 20233618 2010
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR CaV2.1 channelopathies. 20204399 2010
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. 20156848 2010
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation. 20097664 2010
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation. 19811514 2010
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings. 19484318 2009
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood. 18498393 2008
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR Stepwise developmental regression associated with novel CACNA1A mutation. 18940563 2008
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR Large CACNA1A deletion in a family with episodic ataxia type 2. 18541804 2008
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR Migraine: gene mutations and functional consequences. 17495624 2007
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR The genetic spectrum of a population-based sample of familial hemiplegic migraine. 17142831 2007
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation group CLINVAR Primary episodic ataxias: diagnosis, pathogenesis and treatment. 17575281 2007