DisGeNET - a database of gene-disease associations

CACNA1A, calcium voltage-gated channel subunit alpha1 A, 773

N. diseases: 320; N. variants: 106

Disease: Movement Disorders ×

Variant: rs1131691712 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Primary episodic ataxias: diagnosis, pathogenesis and treatment.

17575281

2007

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

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

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.

16595610

2006

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

20682717

2010

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Magnetic resonance imaging in familial paroxysmal ataxia.

3358708

1988

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Eye movement disorders are an early manifestation of CACNA1A mutations in children.

26814174

2016

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Clinical spectrum of episodic ataxia type 2.

14718690

2004

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.

18498393

2008

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

8988170

1997

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

22249839

2012

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

De novo mutations in epileptic encephalopathies.

23934111

2013

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

The International Classification of Headache Disorders, 3rd edition (beta version).

23771276

2013

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.

20097664

2010

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.

16043807

2005

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.

15483044

2004

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.

9403487

1997

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.

16325861

2006

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.

9559993

1998

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.

11723274

2001

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Migraine: gene mutations and functional consequences.

17495624

2007

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.

9005860

1997

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

The genetic spectrum of a population-based sample of familial hemiplegic migraine.

17142831

2007

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Large CACNA1A deletion in a family with episodic ataxia type 2.

18541804

2008

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.

19484318

2009

dbSNP:

rs1131691712

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

28742085

2017