ITGA3, integrin subunit alpha 3, 3675

N. diseases: 111; N. variants: 11
Disease: Junctional Epidermolysis Bullosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		0.330 Biomarker disease BEFREE Junctional epidermolysis bullosa (JEB) is a hereditary blistering disease caused by reduced dermal-epidermal adhesion due to deficiencies of one of the proteins, laminin-332, type XVII collagen, integrin α6β4 or integrin α3. 30761300 2018
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		0.330 Biomarker disease GENOMICS_ENGLAND Recently Identified Forms of Epidermolysis Bullosa. 26719633 2015
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		0.330 GeneticVariation disease BEFREE Interstitial lung disease, nephrotic syndrome and junctional epidermolysis bullosa is an autosomal recessive multiorgan disorder caused by mutations in the gene for the integrin α3 subunit (ITGA3). 25810266 2015
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		0.330 Biomarker disease GENOMICS_ENGLAND Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome. 23114595 2012
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		0.330 Biomarker disease BEFREE Integrin alpha 3 beta 1 which is specifically involved in migration and adhesion of keratinocytes on nicein does not appear altered in JEB. 7967512 1994