GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
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
0.330 GeneticVariation disease BEFREE Novel mutations in GJB6 and GJB2 in Clouston syndrome. 25808784 2015
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia
0.330 GeneticVariation disease BEFREE There are significant differences in the clinical picture of two rare autosomal dominant syndromes: keratitis-ichthyosis-deafness (KID) syndrome and hidrotic ectodermal dysplasia (Clouston syndrome), which are caused by GJB2 and GJB6 mutations, respectively. 25575739 2015
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia
0.330 Biomarker disease GENOMICS_ENGLAND Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. 15757815 2005
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia
0.330 Biomarker disease GENOMICS_ENGLAND Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. 15757815 2005
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia
0.330 GeneticVariation disease BEFREE A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. 15245427 2004