Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Epithelial basement membrane dystrophy
0.120 GeneticVariation disease BEFREE Most cases of epithelial basement membrane dystrophy (EBMD) are thought to result from a degenerative (nongenetic) process; however, a minority of cases are associated with specific TGFBI mutations. 27737463 2016
Epithelial basement membrane dystrophy
0.120 GeneticVariation disease BEFREE In this case of suspected unilateral lattice corneal dystrophy, screening of the TGFBI gene ruled out the diagnosis, raising the possibility that the corneal changes were related to the coexistent anterior basement membrane dystrophy. 15183802 2004
Epithelial basement membrane dystrophy
0.120 Biomarker disease HPO