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
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy. 26758872 2016
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE Novel K12 mutations were linked to Meesmann's corneal dystrophy in two different patients. 15148206 2004
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. 16227835 2005
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE We have identified a novel mutation in the KRT12 gene that is associated with a symptomatic phenotype of Meesmann's corneal dystrophy. 17653038 2007
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE To date, all reported cases of MECD have been associated with either a single mutation in one exon of the keratin-3 gene (KRT3) or a single mutation in one of two exons of the keratin-12 gene (KRT12). 23569037 2013
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. 10781519 2000
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE We present a novel KRT12 mutation, representing the first de novo mutation and the first indel in KRT12 associated with MECD. 26788030 2015
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused MECD. 18661274 2008
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE We identified a heterozygous genetic mutation (c.394 C>G, p.L132V) in the KRT12 gene in six Japanese patients with inherited Meesmann corneal dystrophy. 30535821 2019
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy. 23233254 2013
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE We identified a novel missense mutation of the KRT12 gene in Meesmann corneal dystrophy. 24099278 2014
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE Comparative studies with well established keratin disorders of other human epithelia underscore the pathogenic relevance of K3 and K12 gene mutations in Meesmann's epithelial corneal dystrophy. 12084738 2002
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE In addition, we report four K12 mutations in Meesmann corneal epithelial dystrophy (MCD), an autosomal dominant disorder characterized by intraepithelial microcysts and corneal epithelial fragility in which mutations in keratin 3 (K3) and K12 have recently been implicated. 9399908 1997
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. 10644419 2000
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE Combined with an effective delivery vehicle this siRNA approach represents a viable treatment option for prevention of the MECD pathology observed in K12-Leu132Pro heterozygous individuals. 24801514 2014
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. 16352477 2005
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family. 20577595 2010
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. 12543196 2003
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease BEFREE Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12. 23222558 2013
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: 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