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

Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release.

9545644

1998

dbSNP:

rs1554777375

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release.

9545644

1998

dbSNP:

rs1554777919

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release.

9545644

1998

dbSNP:

rs1554778941

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release.

9545644

1998

dbSNP:

rs767199598

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release.

9545644

1998

dbSNP:

rs796053361

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release.

9545644

1998

dbSNP:

rs1554776842

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

16829045

2006

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:

rs1554777375

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

16829045

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:

rs1554777919

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

16829045

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:

rs1554778941

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

16829045

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:

rs767199598

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

16829045

2006

dbSNP:

rs796053361

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

16829045

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

Munc18-1 binds directly to the neuronal SNARE complex.

17301226

2007

dbSNP:

rs1554777375

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Munc18-1 binds directly to the neuronal SNARE complex.

17301226

2007

dbSNP:

rs1554777919

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Munc18-1 binds directly to the neuronal SNARE complex.

17301226

2007

dbSNP:

rs1554778941

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Munc18-1 binds directly to the neuronal SNARE complex.

17301226

2007

dbSNP:

rs767199598

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Munc18-1 binds directly to the neuronal SNARE complex.

17301226

2007

dbSNP:

rs796053361

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Munc18-1 binds directly to the neuronal SNARE complex.

17301226

2007

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