COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 160; N. variants: 87
Disease: Epidermolysis Bullosa Simplex Superficialis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843477
Disease: Epidermolysis Bullosa Simplex Superficialis
Epidermolysis Bullosa Simplex Superficialis 		0.300 GermlineCausalMutation disease ORPHANET EB simplex superficialis resulting from a mutation in the type VII collagen gene. 11874498 2002