Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lattice corneal dystrophy Type I
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
0.010 GeneticVariation BEFREE The R124C mutation of the TGFBI gene gives rise to lattice corneal dystrophy type I, which is characterized by irregularity, turbulence, and opacity of the corneal epithelium. 22080335 2012