DisGeNET - a database of gene-disease associations

rs863224852, CACNA1A

N. diseases: 3

Disease: Episodic Ataxia ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Episodic Ataxia

CUI:	C1720189
Disease:	Episodic Ataxia

0.010

GeneticVariation

BEFREE

Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.

2016