Source: CLINVAR

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 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 GeneticVariation CLINVAR Primary episodic ataxias: diagnosis, pathogenesis and treatment. 17575281

2007
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. 9559993

1998
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 GeneticVariation CLINVAR Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls. 9879686

1998
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. 15483044

2004
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. 15710862

2005
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 GeneticVariation CLINVAR New calcium channel mutations predict aberrant RNA splicing in episodic ataxia. 16043807

2005
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. 9436730

1998
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Large CACNA1A deletion in a family with episodic ataxia type 2. 18541804

2008
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. 9005860

1997
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Magnetic resonance imaging in familial paroxysmal ataxia. 3358708

1988
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR The genetic spectrum of a population-based sample of familial hemiplegic migraine. 17142831

2007
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
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 GeneticVariation CLINVAR Migraine: gene mutations and functional consequences. 17495624

2007
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings. 19484318

2009
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Familial paroxysmal ataxia: report of a family. 1564484

1992
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation. 20097664

2010