Gene: CACNA1A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report. 28169007 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 Biomarker disease GENOMICS_ENGLAND De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. 27066515 2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 GeneticVariation disease UNIPROT Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. 27250579 2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 GeneticVariation disease UNIPROT De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. 27250579 2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 GeneticVariation disease CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478 2015
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR Rebound upbeat nystagmus after lateral gaze in episodic ataxia type 2. 24420976 2014
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR Rare clinical findings in a patient with sporadic hemiplegic migraine: FDG-PET provides diminished brain metabolism at 10-year follow-up. 24270521 2014
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1. 25274239 2014
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR A novel de novo pathogenic mutation in the CACNA1A gene. 23038654 2012
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR Clinical reasoning: a middle-aged man with episodes of gait imbalance and a newly found genetic mutation. 23071170 2012
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2. 19486177 2009
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 Biomarker disease GENOMICS_ENGLAND Primary episodic ataxias: diagnosis, pathogenesis and treatment. 17575281 2007
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 16325861 2006
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene. 11971066 2002
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia. 11814735 2002
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. 10371528 1999
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine. 10024348 1999
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics. 9488686 1998
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 CausalMutation disease CLINVAR Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206 1996
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.700 Biomarker disease GENOMICS_ENGLAND Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206 1996