TGM5, transglutaminase 5, 9333

N. diseases: 48; N. variants: 12
Disease: Epidermolysis Bullosa Simplex ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		0.010 GeneticVariation disease BEFREE We recommend screening for TGM5 mutations when EBS-loc is suspected but not confirmed by mutations in KRT5 or KRT14. 24628291 2014