DisGeNET - a database of gene-disease associations

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

N. diseases: 320; N. variants: 106

Disease: Episodic ataxia type 2 (disorder) ×

Variant: rs1568457080 ×

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:

rs1568457080

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C1720416
Disease:

Episodic ataxia type 2 (disorder)

0.700

CausalMutation

CLINVAR

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.

27250579

2016

dbSNP:

rs1568457080

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C1720416
Disease:

Episodic ataxia type 2 (disorder)

0.700

CausalMutation

CLINVAR

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

25735478

2015

dbSNP:

rs1568457080

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C1720416
Disease:

Episodic ataxia type 2 (disorder)

0.700

CausalMutation

CLINVAR

Rebound upbeat nystagmus after lateral gaze in episodic ataxia type 2.

24420976

2014

dbSNP:

rs1568457080

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C1720416
Disease:

Episodic ataxia type 2 (disorder)

0.700

CausalMutation

CLINVAR

CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.

19486177

2009

dbSNP:

rs1568457080

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C1720416
Disease:

Episodic ataxia type 2 (disorder)

0.700

CausalMutation

CLINVAR

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.

10371528

1999