DisGeNET - a database of gene-disease associations

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

N. diseases: 213; N. variants: 70

Disease: Pruritus ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0033774
Disease:	Pruritus

Pruritus

0.400

Biomarker

phenotype

CTD_human

Paroxysmal itch caused by gain-of-function Nav1.7 mutation.

2014

CUI:	C0033774
Disease:	Pruritus

Pruritus

0.400

Biomarker

phenotype

HPO