DisGeNET - a database of gene-disease associations

SCN4A, sodium voltage-gated channel alpha subunit 4, 6329

N. diseases: 202; N. variants: 58

Disease: Hypokalemic Periodic Paralysis, Type 2 ×

Variant: rs80338957 ×

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:

rs80338957

rs80338957

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

A

0.700

CausalMutation

CLINVAR