ITGB4, integrin subunit beta 4, 3691

N. diseases: 171; N. variants: 29
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 		0.300 Biomarker disease CTD_human Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. 18348258 2008