DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) ×

Variant: rs771748289 ×

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:

rs771748289

GJB2

CUI:	C2673759
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

GeneticVariation

CLINVAR

Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population.

25085072

2014

dbSNP:

rs771748289

GJB2

CUI:	C2673759
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

GeneticVariation

CLINVAR

Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix.

23967136

2013

dbSNP:

rs771748289

GJB2

CUI:	C2673759
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

CausalMutation

CLINVAR

Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix.

23967136

2013

dbSNP:

rs771748289

GJB2

CUI:	C2673759
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

GeneticVariation

CLINVAR

Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss.

20863150

2011

dbSNP:

rs771748289

GJB2

CUI:	C2673759
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

GeneticVariation

CLINVAR

Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: results of a screening program.

19027181

2009

dbSNP:

rs771748289

GJB2

CUI:	C2673759
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

CausalMutation

CLINVAR

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

17666888

2007

dbSNP:

rs771748289

GJB2

CUI:	C2673759
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

CausalMutation

CLINVAR

GJB2 mutations and degree of hearing loss: a multicenter study.

16380907

2005

dbSNP:

rs771748289

GJB2

CUI:	C2673759
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

CausalMutation

CLINVAR

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

15365987

2004

dbSNP:

rs771748289

GJB2

CUI:	C2673759
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

GeneticVariation

CLINVAR

Clinical presentation of DFNB1.

12408072

2002

dbSNP:

rs771748289

GJB2

CUI:	C2673759
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

CausalMutation

CLINVAR

Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).

11102979

2000

dbSNP:

rs771748289

GJB2

CUI:	C2673759
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

GeneticVariation

CLINVAR

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

10376574

1999