DisGeNET - a database of gene-disease associations

SCN8A-related epilepsy with encephalopathy, C3281191

Gene: SCN8A ×

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:

rs397514738

SCN8A

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs397514738

SCN8A

0.800

GeneticVariation

UNIPROT

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

28923014

2017

dbSNP:

rs587777721

SCN8A

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs587777721

SCN8A

0.800

GeneticVariation

UNIPROT

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

28923014

2017

dbSNP:

rs587777722

SCN8A

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs587777722

SCN8A

0.800

GeneticVariation

UNIPROT

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

28923014

2017

dbSNP:

rs587777723

SCN8A

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs587777723

SCN8A

0.800

GeneticVariation

UNIPROT

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

28923014

2017

dbSNP:

rs587780454

SCN8A

0.800

GeneticVariation

UNIPROT

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

28923014

2017

dbSNP:

rs587780454

SCN8A

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs587780455

SCN8A

0.800

GeneticVariation

UNIPROT

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

28923014

2017

dbSNP:

rs587780455

SCN8A

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs587780586

SCN8A

0.800

GeneticVariation

UNIPROT

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

28923014

2017

dbSNP:

rs587780586

SCN8A

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs672601319

SCN8A

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs672601319

SCN8A

0.800

GeneticVariation

UNIPROT

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

28923014

2017

dbSNP:

rs876657399

SCN8A

0.800

GeneticVariation

UNIPROT

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

28923014

2017

dbSNP:

rs876657399

SCN8A

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs879255696

SCN8A

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs879255696

SCN8A

0.800

GeneticVariation

UNIPROT

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

28923014

2017

dbSNP:

rs879255697

SCN8A

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs879255697

SCN8A

0.800

GeneticVariation

UNIPROT

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

28923014

2017

dbSNP:

rs879255698

SCN8A

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs879255698

SCN8A

0.800

GeneticVariation

UNIPROT

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

28923014

2017

dbSNP:

rs879255699

SCN8A

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017