DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Myasthenic Syndromes, Congenital ×

Gene: SCN4A ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

sodium voltage-gated channel alpha subunit 4

0.554

0.731

1.3E-02

CUI:	C0751882
Disease:	Myasthenic Syndromes, Congenital

Myasthenic Syndromes, Congenital

disease

0.640

None

1.000

0

2003

2016