PLEC, plectin, 5339

N. diseases: 218; N. variants: 35
Disease: Stridor ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038450
Disease: Stridor
Stridor 		0.010 Biomarker phenotype BEFREE Recessive epidermolysis bullosa simplex resulting from abnormalities in plectin should be considered in the differential diagnosis blistering, hoarseness and stridor in infancy. 9470905 1997