DisGeNET - a database of gene-disease associations

Brugada Syndrome 5, C2748541

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894718

SCN1B

0.700

CausalMutation

CLINVAR

Sodium Channel β Subunits in Epilepsy: Location, Location, Location.

28331474

2019

dbSNP:

rs104894718

SCN1B

0.700

CausalMutation

CLINVAR

β1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function.

27277800

2016

dbSNP:

rs104894718

SCN1B

0.700

CausalMutation

CLINVAR

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

17020904

2007

dbSNP:

rs104894718

SCN1B

0.700

CausalMutation

CLINVAR

Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

12011299

2002

dbSNP:

rs104894718

SCN1B

0.700

CausalMutation

CLINVAR

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

9697698

1998

dbSNP:

rs104894718

SCN1B

0.700

CausalMutation

CLINVAR

Arthroplasty of the temporomandibular joint.

5421039

1970

dbSNP:

rs104894718

SCN1B

0.700

GeneticVariation

CLINVAR

dbSNP:

rs16969925

SCN1B

0.700

CausalMutation

CLINVAR

dbSNP:

rs267607028

SCN1B

0.700

CausalMutation

CLINVAR