PLEC, plectin, 5339

N. diseases: 218; N. variants: 35
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		1.000 CausalMutation disease CLINVAR Plectin gene defects lead to various forms of epidermolysis bullosa simplex. 19945614 2010
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		1.000 GeneticVariation disease CLINVAR Plectin gene defects lead to various forms of epidermolysis bullosa simplex. 19945614 2010
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		1.000 Biomarker disease CTD_human