Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		0.330 GeneticVariation BEFREE Novel mutations in GJB6 and GJB2 in Clouston syndrome. 25808784

2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		0.330 GeneticVariation 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
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		0.330 Biomarker GENOMICS_ENGLAND Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. 15757815

2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		0.330 Biomarker GENOMICS_ENGLAND Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. 15757815

2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		0.330 GeneticVariation BEFREE A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. 15245427

2004