rs104894408, GJB2

N. diseases: 13
Disease: Hidrotic Ectodermal Dysplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hidrotic Ectodermal Dysplasia
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
0.010 GeneticVariation BEFREE The other case presented is that of a family with Clouston syndrome (caused by p.Gly11Arg mutation in GJB6), who are the first reported patients of Polish origin suffering from this disorder. 25575739 2015