DisGeNET - a database of gene-disease associations

Movement Disorders, C0026650

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.

20233618

2010

dbSNP:

rs1131691712

CACNA1A

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

CACNA1A

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

CACNA1A

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

CACNA1A

0.700

CausalMutation

CLINVAR

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

25735478

2015

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.

18498393

2008

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

CaV2.1 channelopathies.

20204399

2010

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

Clinical spectrum of episodic ataxia type 2.

14718690

2004

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

28742085

2017

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

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

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

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

20097664

2010

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

De novo mutations in epileptic encephalopathies.

23934111

2013

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

27476654

2016

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

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

15483044

2004

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

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

16325861

2006

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

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

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

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

26814174

2016

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

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

9005860

1997

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.

8898206

1996

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

Familial paroxysmal ataxia: report of a family.

1564484

1992

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.

20156848

2010

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.

15300451

2004

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.

11564488

2001

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.

23441182

2013

dbSNP:

rs1131691712

CACNA1A

0.700

CausalMutation

CLINVAR

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

20129625

2010