Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038457
Disease: Stromal Dystrophies, Corneal
Stromal Dystrophies, Corneal
0.020 Biomarker group BEFREE Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene. 11262611 2000
CUI: C0038457
Disease: Stromal Dystrophies, Corneal
Stromal Dystrophies, Corneal
0.020 GeneticVariation group BEFREE To evaluate the incidence of BIGH3 gene mutations in 164 unrelated Japanese patients with corneal stromal dystrophies with an autosomal dominant trait. 11024425 2000