GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14
Disease: Anhydrotic Ectodermal Dysplasias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
Anhydrotic Ectodermal Dysplasias 		0.310 GeneticVariation disease BEFREE We report on an 18-year-old woman, born to first-cousin parents, presenting with a severe form of anhydrotic ectodermal dysplasia (EDA/HED). 18816645 2008
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
Anhydrotic Ectodermal Dysplasias 		0.310 Biomarker disease CTD_human