DisGeNET - a database of gene-disease associations

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, C1858673

Gene: SCN1A ×

Source: UNIPROT ×

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:

rs121917930

SCN1A ; SCN1A-AS1 ; LOC102724058

0.800

GeneticVariation

UNIPROT

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

21864321

2011

dbSNP:

rs121917953

SCN1A ; SCN1A-AS1

0.800

GeneticVariation

UNIPROT

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

21864321

2011

dbSNP:

rs121917954

SCN1A ; SCN1A-AS1 ; LOC102724058

0.800

GeneticVariation

UNIPROT

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

21864321

2011

dbSNP:

rs121917955

SCN1A ; SCN1A-AS1 ; LOC102724058

0.800

GeneticVariation

UNIPROT

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

21864321

2011

dbSNP:

rs121917971

SCN1A ; SCN1A-AS1

0.800

GeneticVariation

UNIPROT

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

21864321

2011

dbSNP:

rs121918622

SCN1A ; SCN1A-AS1 ; LOC102724058

0.800

GeneticVariation

UNIPROT

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

21864321

2011

dbSNP:

rs121918623

SCN1A ; SCN1A-AS1

0.800

GeneticVariation

UNIPROT

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

21864321

2011

dbSNP:

rs121918626

SCN1A ; SCN1A-AS1 ; LOC102724058

0.800

GeneticVariation

UNIPROT

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

21864321

2011

dbSNP:

rs121918627

SCN1A ; SCN1A-AS1 ; LOC102724058

0.800

GeneticVariation

UNIPROT

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

21864321

2011

dbSNP:

rs121917930

SCN1A ; SCN1A-AS1 ; LOC102724058

0.800

GeneticVariation

UNIPROT

Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

20729507

2010

dbSNP:

rs121917930

SCN1A ; SCN1A-AS1 ; LOC102724058

0.800

GeneticVariation

UNIPROT

Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.

20117752

2010

dbSNP:

rs121917930

SCN1A ; SCN1A-AS1 ; LOC102724058

0.800

GeneticVariation

UNIPROT

Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.

20600615

2010

dbSNP:

rs121917953

SCN1A ; SCN1A-AS1

0.800

GeneticVariation

UNIPROT

Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

20729507

2010

dbSNP:

rs121917953

SCN1A ; SCN1A-AS1

0.800

GeneticVariation

UNIPROT

Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.

20600615

2010

dbSNP:

rs121917953

SCN1A ; SCN1A-AS1

0.800

GeneticVariation

UNIPROT

Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.

20117752

2010

dbSNP:

rs121917954

SCN1A ; SCN1A-AS1 ; LOC102724058

0.800

GeneticVariation

UNIPROT

Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.

20117752

2010

dbSNP:

rs121917954

SCN1A ; SCN1A-AS1 ; LOC102724058

0.800

GeneticVariation

UNIPROT

Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

20729507

2010

dbSNP:

rs121917954

SCN1A ; SCN1A-AS1 ; LOC102724058

0.800

GeneticVariation

UNIPROT

Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.

20600615

2010

dbSNP:

rs121917955

SCN1A ; SCN1A-AS1 ; LOC102724058

0.800

GeneticVariation

UNIPROT

Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.

20117752

2010

dbSNP:

rs121917955

SCN1A ; SCN1A-AS1 ; LOC102724058

0.800

GeneticVariation

UNIPROT

Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

20729507

2010

dbSNP:

rs121917955

SCN1A ; SCN1A-AS1 ; LOC102724058

0.800

GeneticVariation

UNIPROT

Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.

20600615

2010

dbSNP:

rs121917971

SCN1A ; SCN1A-AS1

0.800

GeneticVariation

UNIPROT

Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

20729507

2010

dbSNP:

rs121917971

SCN1A ; SCN1A-AS1

0.800

GeneticVariation

UNIPROT

Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.

20600615

2010

dbSNP:

rs121917971

SCN1A ; SCN1A-AS1

0.800

GeneticVariation

UNIPROT

Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.

20117752

2010

dbSNP:

rs121918622

SCN1A ; SCN1A-AS1 ; LOC102724058

0.800

GeneticVariation

UNIPROT

Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.

20117752

2010