ITGB4, integrin subunit beta 4, 3691

N. diseases: 171; N. variants: 29
Disease: Herlitz Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.310 GeneticVariation disease BEFREE Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. 14705814 2003
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.310 Biomarker disease CTD_human Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. 7545057 1995