DisGeNET - a database of gene-disease associations

Neurodevelopmental Disorders, C1535926

Gene: STXBP1 ×

Source: CURATED ×

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

0.370

Biomarker

group

CTD_human

De novo variants in neurodevelopmental disorders with epilepsy.

29942082

2018

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

0.370

Biomarker

group

CTD_human

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

28191889

2017