DisGeNET - a database of gene-disease associations

STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62

Disease: Epileptic Encephalopathy, Early Infantile, 4 ×

Variant: rs1554776853 ×

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:

rs1554776853

rs1554776853

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554776853

rs1554776853

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

C

0.700

GeneticVariation

CLINVAR