DisGeNET - a database of gene-disease associations

SCN1A, sodium voltage-gated channel alpha subunit 1, 6323

N. diseases: 287; N. variants: 533

Disease: Early Infantile Epileptic Encephalopathy 6 ×

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:

rs121917915

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917918

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917921

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917922

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917923

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917927

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917929

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917935

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917937

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917938

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917945

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917959

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917960

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917964

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917965

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917971

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917976

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917980

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917984

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917985

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917986

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121917990

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121918625

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121918733

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017

dbSNP:

rs121918734

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

A mutation in GABRB3 associated with Dravet syndrome.

28544625

2017