Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia
1.000 GermlineCausalMutation 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

Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia
1.000 GermlineCausalMutation ORPHANET Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065

2000