ITGA3, integrin subunit alpha 3, 3675

N. diseases: 111; N. variants: 11
Disease: Lung diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.020 GeneticVariation group BEFREE Recently, mutations in the human ITGA3 were shown to cause congenital nephrotic syndrome, epidermolysis bullosa and interstitial lung disease, otherwise termed NEP syndrome (Nephrotic syndrome, Epidermolysis bullosa and Pulmonary disease). 24621570 2014
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.020 Biomarker group BEFREE Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome. 23114595 2012