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
0.010 GeneticVariation BEFREE Records of patients carrying this mutation were compared with those from three unrelated patients with corneal dystrophy of Bowman's layer (CDB) type 2 (R555Q mutation) and from three unrelated patients with classic corneal granular dystrophy (R555W mutation). 10889112 2000