DisGeNET - a database of gene-disease associations

GABRB2, gamma-aminobutyric acid type A receptor subunit beta2, 2561

N. diseases: 89; N. variants: 20

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:

rs1554093885

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

GeneticVariation

UNIPROT

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

29100083

2017

dbSNP:

rs1554093885

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

GeneticVariation

UNIPROT

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

27789573

2017

dbSNP:

rs1554093894

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

GeneticVariation

UNIPROT

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

27789573

2017

dbSNP:

rs1554093894

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

GeneticVariation

UNIPROT

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

29100083

2017

dbSNP:

rs1554094145

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

GeneticVariation

UNIPROT

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

29100083

2017

dbSNP:

rs1554094145

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

GeneticVariation

UNIPROT

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

27789573

2017

dbSNP:

rs1554094149

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

GeneticVariation

UNIPROT

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

29100083

2017

dbSNP:

rs1554094149

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

GeneticVariation

UNIPROT

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

27789573

2017

dbSNP:

rs1554093885

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

GeneticVariation

UNIPROT

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

25124326

2014

dbSNP:

rs1554093894

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

GeneticVariation

UNIPROT

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

25124326

2014

dbSNP:

rs1554094145

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

GeneticVariation

UNIPROT

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

25124326

2014

dbSNP:

rs1554094149

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

GeneticVariation

UNIPROT

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

25124326

2014

dbSNP:

rs1554093885

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs1554093894

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs1554094145

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs1554094149

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs606231468

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

GeneticVariation

UNIPROT

dbSNP:

rs606231468

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs62381574

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs1554093884

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.700

GeneticVariation

UNIPROT

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

27789573

2017

dbSNP:

rs1554093884

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C4693362
Disease:

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

0.700

GeneticVariation

UNIPROT

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

29100083

2017

dbSNP:

rs1554094278

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

27789573

2017

dbSNP:

rs1554094278

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

29100083

2017

dbSNP:

rs1554094278

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

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

27476654

2016

dbSNP:

rs1554094278

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Novel genetic causes for cerebral visual impairment.

26350515

2016