DisGeNET - a database of gene-disease associations

Source: CLINVAR

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

Variant: rs786204690 ×

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:

rs786204690

GJB2

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

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

GeneticVariation

CLINVAR

Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.

18941476

2009

dbSNP:

rs786204690

GJB2

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

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

GeneticVariation

CLINVAR

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

17666888

2007

dbSNP:

rs786204690

GJB2

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

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

GeneticVariation

CLINVAR

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.

12560944

2003

dbSNP:

rs786204690

GJB2

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

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

GeneticVariation

CLINVAR

Prevalent connexin 26 gene (GJB2) mutations in Japanese.

10633133

2000

dbSNP:

rs786204690

GJB2

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

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

GeneticVariation

CLINVAR

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.

10501520

1999