GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14
Disease: Hidrotic Ectodermal Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease CTD_human
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE Clouston syndrome and eccrine syringofibroadenoma are uncommon disorders that have been reported together rarely and only before the discovery of the GJB6 gene for Clouston syndrome. 19318801 2009
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease CLINGEN A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 27137747 2016
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 27137747 2016
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 27137747 2016
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease GENOMICS_ENGLAND A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 27137747 2016
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. 12788524 2003
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. 12788524 2003
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease CLINGEN A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis. 18717672 2008
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia. 24514865 2014
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR Clouston syndrome can mimic pachyonychia congenita. 14708603 2003
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. 23863883 2013
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis. 15769851 2005
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. 15213106 2004
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease GENOMICS_ENGLAND Expression of the gap-junction connexins 26 and 30 in the rat cochlea. 9799458 1998
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease CLINGEN Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma. 26620415 2016
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR Functional studies of human skin disease- and deafness-associated connexin 30 mutations. 12419304 2002
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family. 20536673 2010
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease BEFREE Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome. 11874494 2002
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GeneticVariation disease 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
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 GermlineCausalMutation disease ORPHANET Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome. 11874494 2002
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease CLINGEN Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome. 11874494 2002
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease GENOMICS_ENGLAND Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome. 11874494 2002
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker disease GENOMICS_ENGLAND Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia. 23981984 2013
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 CausalMutation disease CLINVAR Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia. 23981984 2013