Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR β1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function. 27277800

2016
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome. 24747835

2014
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR Crystal structure and molecular imaging of the Nav channel β3 subunit indicates a trimeric assembly. 24567321

2014
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842

2014
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR Functional modulation of voltage-dependent sodium channel expression by wild type and mutated C121W-β1 subunit. 23584539

2013
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR Presence of epilepsy-associated variants in large exome databases. 23527921

2013
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR A thermoprotective role of the sodium channel β1 subunit is lost with the β1 (C121W) mutation. 22292491

2012
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR Identification of an intra-molecular disulfide bond in the sodium channel β1-subunit. 22425777

2012
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 17020904

2007
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR Membrane proteins with immunoglobulin-like domains--a master superfamily of interaction molecules. 14690046

2003
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. 14504340

2003
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. 12011299

2002
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation. 11866477

2002
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. 12486163

2002
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 9697698

1998
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR Molecular determinants of Na+ channel function in the extracellular domain of the beta1 subunit. 9461582

1998
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain. 9539778

1998