DisGeNET - a database of gene-disease associations

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43, C4310712

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:

rs886037938

GABRB3

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:

rs886037939

GABRB3

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:

rs886037940

GABRB3

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:

rs886037941

GABRB3

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:

rs886037938

GABRB3

0.800

GeneticVariation

UNIPROT

Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.

26950270

2016

dbSNP:

rs886037938

GABRB3

0.800

GeneticVariation

UNIPROT

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

27476654

2016

dbSNP:

rs886037938

GABRB3

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:

rs886037939

GABRB3

0.800

GeneticVariation

UNIPROT

Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.

26950270

2016

dbSNP:

rs886037939

GABRB3

0.800

GeneticVariation

UNIPROT

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

27476654

2016

dbSNP:

rs886037939

GABRB3

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:

rs886037940

GABRB3

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:

rs886037940

GABRB3

0.800

GeneticVariation

UNIPROT

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

27476654

2016

dbSNP:

rs886037940

GABRB3

0.800

GeneticVariation

UNIPROT

Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.

26950270

2016

dbSNP:

rs886037941

GABRB3

0.800

GeneticVariation

UNIPROT

Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.

26950270

2016

dbSNP:

rs886037941

GABRB3

0.800

GeneticVariation

UNIPROT

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

27476654

2016

dbSNP:

rs886037941

GABRB3

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:

rs886037938

GABRB3

0.800

GeneticVariation

UNIPROT

De novo mutations in moderate or severe intellectual disability.

25356899

2014

dbSNP:

rs886037939

GABRB3

0.800

GeneticVariation

UNIPROT

De novo mutations in moderate or severe intellectual disability.

25356899

2014

dbSNP:

rs886037940

GABRB3

0.800

GeneticVariation

UNIPROT

De novo mutations in moderate or severe intellectual disability.

25356899

2014

dbSNP:

rs886037941

GABRB3

0.800

GeneticVariation

UNIPROT

De novo mutations in moderate or severe intellectual disability.

25356899

2014

dbSNP:

rs886037938

GABRB3

0.800

GeneticVariation

UNIPROT

De novo mutations in epileptic encephalopathies.

23934111

2013

dbSNP:

rs886037939

GABRB3

0.800

GeneticVariation

UNIPROT

De novo mutations in epileptic encephalopathies.

23934111

2013

dbSNP:

rs886037940

GABRB3

0.800

GeneticVariation

UNIPROT

De novo mutations in epileptic encephalopathies.

23934111

2013

dbSNP:

rs886037941

GABRB3

0.800

GeneticVariation

UNIPROT

De novo mutations in epileptic encephalopathies.

23934111

2013

dbSNP:

rs886037938

GABRB3

0.800

CausalMutation

CLINVAR