DisGeNET - a database of gene-disease associations

KCNC3, potassium voltage-gated channel subfamily C member 3, 3748

N. diseases: 58; N. variants: 11

Disease: Spinocerebellar ataxia 13 ×

Variant: rs797044872 ×

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:

rs797044872

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.800

GeneticVariation

UNIPROT

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

20050888

2010

dbSNP:

rs797044872

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.800

CausalMutation

CLINVAR