DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Epileptic encephalopathy ×

Gene: FGF12 ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0543888
Disease:	Epileptic encephalopathy

Epileptic encephalopathy

0.430

Biomarker

GENOMICS_ENGLAND

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

27872899

2016

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0543888
Disease:	Epileptic encephalopathy

Epileptic encephalopathy

0.430

Biomarker

GENOMICS_ENGLAND