FERMT1, fermitin family member 1, 55612

N. diseases: 104; N. variants: 27
Disease: Epidermolysis Bullosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.010 GeneticVariation disease BEFREE Their biological significance in skin is underscored by two genetic disorders, the Kindler syndrome and the interstitial lung disease, nephrotic syndrome and epidermolysis bullosa, in which mutations affect focal adhesion proteins, kindlin-1 and the integrin α3 subunit, respectively. 28690212 2017