Disease: Hay-Wells syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.030 Biomarker disease BEFREE What is New: • Patients with EEC and AEC syndromes often can sweat normally. 30088137 2018
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.030 GeneticVariation disease BEFREE All EEC missense mutations are clustered in the DNA binding domain and do not bind to DNA; in contrast, all missens mutations reported in AEC syndrome are localized in the α-motif domain, and it has been demonstrated that they disrupt interaction with other proteins. 23407076 2013
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.030 Biomarker disease BEFREE One family is atypical for EEC and has features consistent with Hay-Wells syndrome. 12161593 2002