rs121909210, TGFBI

N. diseases: 15
Disease: Granular Dystrophy, Corneal ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Granular Dystrophy, Corneal
CUI: C0018179
Disease: Granular Dystrophy, Corneal
0.020 GeneticVariation BEFREE Protein Composition of TGFBI-R124C- and TGFBI-R555W-Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy. 26207300 2015
Granular Dystrophy, Corneal
CUI: C0018179
Disease: Granular Dystrophy, Corneal
0.020 GeneticVariation BEFREE Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied. 15623763 2005