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 phenotype CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 GeneticVariation phenotype CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 GeneticVariation phenotype 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 GeneticVariation phenotype 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 phenotype 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 phenotype CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174 2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 GeneticVariation phenotype 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 phenotype 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 phenotype 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 GeneticVariation phenotype 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 GeneticVariation phenotype CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 GeneticVariation phenotype CLINVAR Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine. 23831250 2013
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation phenotype 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 phenotype CLINVAR Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine. 23831250 2013
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 GeneticVariation phenotype CLINVAR The International Classification of Headache Disorders, 3rd edition (beta version). 23771276 2013
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 GeneticVariation phenotype 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 phenotype CLINVAR The International Classification of Headache Disorders, 3rd edition (beta version). 23771276 2013
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation phenotype CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 GeneticVariation phenotype 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 phenotype 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 GeneticVariation phenotype 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 phenotype 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 phenotype 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 phenotype 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 phenotype CLINVAR Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation. 19811514 2010