DisGeNET - a database of gene-disease associations

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

N. diseases: 287; N. variants: 533

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:

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

dbSNP:

rs121918735

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:

rs121918736

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:

rs121918737

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:

rs121918738

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:

rs121918739

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:

rs121918740

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:

rs121918741

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:

rs121918742

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:

rs121918763

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:

rs121918768

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:

rs121918770

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:

rs121918773

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:

rs121918775

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:

rs121918785

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:

rs121918791

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:

rs121918793

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:

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

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

26993267

2016

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

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

26993267

2016

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

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

26993267

2016

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

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

26993267

2016

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

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

26993267

2016

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

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

26993267

2016