DisGeNET - a database of gene-disease associations

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

N. diseases: 202; N. variants: 58

Disease: Myotonic Disorders ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0553604
Disease:	Myotonic Disorders

Myotonic Disorders

0.310

GeneticVariation

group

LHGDN

Reduced muscle-fiber conduction but normal slowing after cold exposure in paramyotonia congenita.

2008

CUI:	C0553604
Disease:	Myotonic Disorders

Myotonic Disorders

0.310

Biomarker

group

CTD_human