DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Epileptic encephalopathy ×

Gene: STXBP1 ×

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:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0543888
Disease:	Epileptic encephalopathy

Epileptic encephalopathy

0.200

GeneticVariation

CLINVAR

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0543888
Disease:	Epileptic encephalopathy

Epileptic encephalopathy

0.200

CausalMutation

CLINVAR