DisGeNET - a database of gene-disease associations

SCN2A, sodium voltage-gated channel alpha subunit 2, 6326

N. diseases: 232; N. variants: 108

Disease: Epileptic encephalopathy ×

Variant: rs794727444 ×

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:

rs794727444

rs794727444

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C0543888
Disease:

Epileptic encephalopathy

A

0.700

CausalMutation

CLINVAR