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 		0.100 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 Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. 9436730 1998
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.100 CausalMutation group CLINVAR Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. 15710862 2005
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.100 CausalMutation group CLINVAR Clinical spectrum of episodic ataxia type 2. 14718690 2004
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.100 CausalMutation group CLINVAR Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. 9005860 1997
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 Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085 2017
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 Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. 9403487 1997
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.100 CausalMutation group CLINVAR Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. 11723274 2001
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.100 CausalMutation group CLINVAR Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. 12707077 2003
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 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 Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. 15483044 2004
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.100 CausalMutation group CLINVAR Familial paroxysmal ataxia: report of a family. 1564484 1992
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.100 CausalMutation group CLINVAR Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 16325861 2006
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.100 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 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 Migraine: gene mutations and functional consequences. 17495624 2007
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 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 		0.100 CausalMutation group CLINVAR Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. 11179022 2001
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.100 CausalMutation group CLINVAR Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 9302278 1997
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.100 CausalMutation group CLINVAR New calcium channel mutations predict aberrant RNA splicing in episodic ataxia. 16043807 2005