DisGeNET - a database of gene-disease associations

SCN9A, sodium voltage-gated channel alpha subunit 9, 6335

N. diseases: 213; N. variants: 70

Disease: PAROXYSMAL EXTREME PAIN DISORDER ×

Variant: rs1131691776 ×

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:

rs1131691776

Entrez Id:	6335;101929680
Gene Symbol:	SCN9A;SCN1A-AS1

SCN9A;SCN1A-AS1

CUI:	C1833661
Disease:

PAROXYSMAL EXTREME PAIN DISORDER

0.810

GeneticVariation

BEFREE

The novel p.L1612P Nav1.7 mutation expands the PEPD spectrum with a unique combination of clinical symptoms and electrophysiological properties.

25285947

2015

dbSNP:

rs1131691776

Entrez Id:	6335;101929680
Gene Symbol:	SCN9A;SCN1A-AS1

SCN9A;SCN1A-AS1

CUI:	C1833661
Disease:

PAROXYSMAL EXTREME PAIN DISORDER

0.810

GeneticVariation

UNIPROT

dbSNP:

rs1131691776

Entrez Id:	6335;101929680
Gene Symbol:	SCN9A;SCN1A-AS1

SCN9A;SCN1A-AS1

CUI:	C1833661
Disease:

PAROXYSMAL EXTREME PAIN DISORDER

0.810

CausalMutation

CLINVAR