DisGeNET - a database of gene-disease associations

STX1B, syntaxin 1B, 112755

N. diseases: 58; N. variants: 17

Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4015395
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9

0.700

Biomarker

disease

GENOMICS_ENGLAND

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

25362483

2014

CUI:	C4015395
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9

0.700

GeneticVariation

disease

UNIPROT

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

25362483

2014

CUI:	C4015395
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9

0.700

Biomarker

disease

GENOMICS_ENGLAND

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

25362483

2014

CUI:	C4015395
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9

0.700

Biomarker

disease

CTD_human

CUI:	C4015395
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9

0.700

CausalMutation

disease

CLINVAR