rs57872071, KRT3

N. diseases: 1
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Corneal Dystrophy, Juvenile Epithelial of Meesmann
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
Corneal Dystrophy, Juvenile Epithelial of Meesmann
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. 16227835 2005