DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Global developmental delay ×

Gene: STXBP1 ×

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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:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.150

CausalMutation

CLINVAR

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

2016