DisGeNET - a database of gene-disease associations

GABBR2, gamma-aminobutyric acid type B receptor subunit 2, 9568

N. diseases: 81; N. variants: 19

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 ×

Variant: rs1554689319 ×

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:

rs1554689319

Entrez Id:	9568
Gene Symbol:	GABBR2

GABBR2

CUI:	C4693550
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59

0.800

GeneticVariation

UNIPROT

A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.

29369404

2018

dbSNP:

rs1554689319

Entrez Id:	9568
Gene Symbol:	GABBR2

GABBR2

CUI:	C4693550
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59

0.800

GeneticVariation

UNIPROT

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

29100083

2017

dbSNP:

rs1554689319

Entrez Id:	9568
Gene Symbol:	GABBR2

GABBR2

CUI:	C4693550
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59

0.800

GeneticVariation

UNIPROT

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

28856709

2017

dbSNP:

rs1554689319

Entrez Id:	9568
Gene Symbol:	GABBR2

GABBR2

CUI:	C4693550
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59

0.800

CausalMutation

CLINVAR