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: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1
0.050 GeneticVariation disease BEFREE In addition, two mutations in the helix initiation motif of K12 were found in families with MCD. 10644419 2000
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1
0.050 GeneticVariation disease BEFREE A novel missense mutation (R503P) in KRT3 and another novel missense mutation (Y429C) in KRT12 lead to MCD in 2 unrelated Taiwanese families. 16227835 2005
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1
0.050 GeneticVariation disease BEFREE In this study, four new K12 mutations (Arg135Gly, Arg135Ile, Tyr429Asp, and Leu140Arg) were identified in three unrelated MCD pedigrees and in one individual with MCD. 9399908 1997
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1
0.050 GeneticVariation disease BEFREE This novel mutation (Ala137Pro) of the keratin 12 gene found in a Japanese family had caused MCD. 12543196 2003
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1
0.050 Biomarker disease BEFREE Missense mutations have now been identified within the region encoding the helix initiation motif of the K12 protein in eight of 11 MCD kindreds analysed at the molecular level. 10781519 2000