Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085

2017

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085

2017

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654

2016

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174

2016

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654

2016

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174

2016

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine. 23831250

2013

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine. 23831250

2013

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR The International Classification of Headache Disorders, 3rd edition (beta version). 23771276

2013

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR The International Classification of Headache Disorders, 3rd edition (beta version). 23771276

2013

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation CLINVAR Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS. 22249839

2012

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS. 22249839

2012

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration. 20233618

2010

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation. 19811514

2010