KRT12, keratin 12, 3859

N. diseases: 18; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
0.110 GeneticVariation disease BEFREE We have identified a novel missense mutation within the highly conserved helix-initiation motif of KRT12 causing Meesmann;s corneal dystrophy in a German family. 20577595 2010
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
0.110 Biomarker disease HPO