DisGeNET - a database of gene-disease associations

Hidrotic Ectodermal Dysplasia, C0162361

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs28937872

GJB6

0.740

GeneticVariation

BEFREE

That said, the Cx30 p.Ala88Val (A88V) mutant causes Clouston syndrome, but not hearing loss.

30559251

2019

dbSNP:

rs104894415

GJB6

0.830

CausalMutation

CLINVAR

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

27817781

2016

dbSNP:

rs28937872

GJB6

0.740

CausalMutation

CLINVAR

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

27137747

2016

dbSNP:

rs104894415

GJB6

0.830

CausalMutation

CLINVAR

Immune system disturbances in Clouston syndrome.

26551294

2016

dbSNP:

rs104894415

GJB6

0.830

GeneticVariation

BEFREE

The other case presented is that of a family with Clouston syndrome (caused by p.Gly11Arg mutation in GJB6), who are the first reported patients of Polish origin suffering from this disorder.

25575739

2015

dbSNP:

rs104894408

GJB2

0.010

GeneticVariation

BEFREE

The other case presented is that of a family with Clouston syndrome (caused by p.Gly11Arg mutation in GJB6), who are the first reported patients of Polish origin suffering from this disorder.

25575739

2015

dbSNP:

rs770612890

GJB6

0.700

GeneticVariation

CLINVAR

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

25262649

2014

dbSNP:

rs28937872

GJB6

0.740

GeneticVariation

BEFREE

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

24685692

2014

dbSNP:

rs28937872

GJB6

0.740

CausalMutation

CLINVAR

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

24685692

2014

dbSNP:

rs104894416

GJB6

0.830

GeneticVariation

BEFREE

The loss-of-function V37E mutant associated with Clouston syndrome or keratitis-ichthyosis-deafness syndrome was retained in the endoplasmic reticulum and significantly induced apoptosis.

24522190

2014

dbSNP:

rs28937872

GJB6

0.740

GeneticVariation

BEFREE

Lastly, the A88V mutant, which is linked to the development of Clouston syndrome, also significantly induced apoptosis but through an endoplasmic-reticulum-independent mechanism.

24522190

2014

dbSNP:

rs28937872

GJB6

0.740

CausalMutation

CLINVAR

Lastly, the A88V mutant, which is linked to the development of Clouston syndrome, also significantly induced apoptosis but through an endoplasmic-reticulum-independent mechanism.

24522190

2014

dbSNP:

rs104894415

GJB6

0.830

CausalMutation

CLINVAR

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

24514865

2014

dbSNP:

rs104894415

GJB6

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

GJB6

0.830

CausalMutation

CLINVAR

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

23926005

2013

dbSNP:

rs28937872

GJB6

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:

rs104894415

GJB6

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

GJB6

0.830

GeneticVariation

BEFREE

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

GJB6

0.830

GeneticVariation

BEFREE

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:

rs768448761

RPE65

0.010

GeneticVariation

BEFREE

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

GJB6

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:

rs770612890

GJB6

0.700

GeneticVariation

CLINVAR

Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.

16950989

2006

dbSNP:

rs104894415

GJB6

0.830

CausalMutation

CLINVAR

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

15769851

2005

dbSNP:

rs104894415

GJB6

0.830

CausalMutation

CLINVAR

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

15213106

2004

dbSNP:

rs28937872

GJB6

0.740

CausalMutation

CLINVAR

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

15213106

2004