Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Corneal dystrophy, Lattice type 3
CUI: C0339273
Disease: Corneal dystrophy, Lattice type 3
0.010 GeneticVariation BEFREE Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an extensively studied family that lacked the R124C mutation that frequently accompanies this form of corneal amyloidosis. 15111592 2004