DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Infantile Severe Myoclonic Epilepsy ×

Gene: SCN9A ×

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:	6335
Gene Symbol:	SCN9A

SCN9A

sodium voltage-gated channel alpha subunit 9

0.543

0.615

4.8E-19

CUI:	C0751122
Disease:	Infantile Severe Myoclonic Epilepsy

Infantile Severe Myoclonic Epilepsy

disease

0.570

None

1.000

0

2006

2020