COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 160; N. variants: 87
Disease: Epidermolysis Bullosa Dystrophica ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 15 15 0.900 None 1.000 128 15 1992 2019