DisGeNET - a database of gene-disease associations

GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14

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:

rs104894415

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

GeneticVariation

UNIPROT

Mutations in GJB6 cause hidrotic ectodermal dysplasia.

11017065

2000

dbSNP:

rs104894415

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

GeneticVariation

UNIPROT

A novel connexin 30 mutation in Clouston syndrome.

11874494

2002

dbSNP:

rs104894416

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

GeneticVariation

UNIPROT

Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome.

11874494

2002

dbSNP:

rs104894416

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

GeneticVariation

UNIPROT

Mutations in GJB6 cause hidrotic ectodermal dysplasia.

11017065

2000

dbSNP:

rs104894414

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C2675237
Disease:

Deafness, Autosomal Dominant 3B

0.800

GeneticVariation

UNIPROT

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.

10471490

1999

dbSNP:

rs104894415

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

CausalMutation

CLINVAR

Immune system disturbances in Clouston syndrome.

26551294

2016

dbSNP:

rs104894415

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

CausalMutation

CLINVAR

We identified a recurrent heterozygous mutation c.31G>C (p.Gly11Arg) in the GJB6 gene in the Lebanese-German family with Clouston syndrome.

23219093

2013

dbSNP:

rs104894415

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

CausalMutation

CLINVAR

Functional studies of human skin disease- and deafness-associated connexin 30 mutations.

12419304

2002

dbSNP:

rs104894415

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

CausalMutation

CLINVAR

[Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia].

23926005

2013

dbSNP:

rs104894415

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

CausalMutation

CLINVAR

A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.

12788524

2003

dbSNP:

rs104894415

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

CausalMutation

CLINVAR

Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.

15213106

2004

dbSNP:

rs104894415

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

CausalMutation

CLINVAR

A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

24514865

2014

dbSNP:

rs104894415

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

CausalMutation

CLINVAR

Mutations in GJB6 cause hidrotic ectodermal dysplasia.

11017065

2000

dbSNP:

rs104894415

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

CausalMutation

CLINVAR

Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.

23981984

2013

dbSNP:

rs104894415

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

CausalMutation

CLINVAR

[A gene study of a family with hidrotic ectodermal dysplasia].

27817781

2016

dbSNP:

rs104894415

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

CausalMutation

CLINVAR

Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.

15769851

2005

dbSNP:

rs104894415

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

CausalMutation

CLINVAR

G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family.

20536673

2010

dbSNP:

rs104894416

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.830

CausalMutation

CLINVAR

dbSNP:

rs104894414

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C2675237
Disease:

Deafness, Autosomal Dominant 3B

0.800

CausalMutation

CLINVAR

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.

10471490

1999

dbSNP:

rs28937872

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.740

CausalMutation

CLINVAR

A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.

27137747

2016

dbSNP:

rs28937872

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.740

CausalMutation

CLINVAR

Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.

15213106

2004

dbSNP:

rs28937872

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.740

CausalMutation

CLINVAR

Mutations in GJB6 cause hidrotic ectodermal dysplasia.

11017065

2000

dbSNP:

rs28937872

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.740

CausalMutation

CLINVAR

The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.

24685692

2014

dbSNP:

rs28937872

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.740

CausalMutation

CLINVAR

Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia.

23863883

2013

dbSNP:

rs28937872

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

CUI:	C0162361
Disease:

Hidrotic Ectodermal Dysplasia

0.740

CausalMutation

CLINVAR

Functional studies of human skin disease- and deafness-associated connexin 30 mutations.

12419304

2002