DisGeNET - a database of gene-disease associations

STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62

Disease: Movement Disorders ×

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:

rs1554776842

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

25714420

2015

dbSNP:

rs1554777375

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

25714420

2015

dbSNP:

rs1554777919

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

25714420

2015

dbSNP:

rs1554778941

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

25714420

2015

dbSNP:

rs767199598

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

25714420

2015

dbSNP:

rs796053361

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

25714420

2015

dbSNP:

rs1554776842

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

A new paradigm for West syndrome based on molecular and cell biology.

16806828

2006

dbSNP:

rs1554777375

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

A new paradigm for West syndrome based on molecular and cell biology.

16806828

2006

dbSNP:

rs1554777919

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

A new paradigm for West syndrome based on molecular and cell biology.

16806828

2006

dbSNP:

rs1554778941

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

A new paradigm for West syndrome based on molecular and cell biology.

16806828

2006

dbSNP:

rs767199598

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

A new paradigm for West syndrome based on molecular and cell biology.

16806828

2006

dbSNP:

rs796053361

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

A new paradigm for West syndrome based on molecular and cell biology.

16806828

2006

dbSNP:

rs1554776842

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

20876469

2010

dbSNP:

rs1554777375

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

20876469

2010

dbSNP:

rs1554777919

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

20876469

2010

dbSNP:

rs1554778941

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

20876469

2010

dbSNP:

rs767199598

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

20876469

2010

dbSNP:

rs796053361

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

20876469

2010

dbSNP:

rs1554776842

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

18469812

2008

dbSNP:

rs1554777375

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

18469812

2008

dbSNP:

rs1554777919

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

18469812

2008

dbSNP:

rs1554778941

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

18469812

2008

dbSNP:

rs767199598

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

18469812

2008

dbSNP:

rs796053361

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

18469812

2008

dbSNP:

rs1554776842

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

19557857

2009