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: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
0.010 Biomarker disease BEFREE We are beginning to see its application in gene manipulation of sickle cell disease, human immunodeficiency virus resistant embryologic twin gene modification and IBD genes such as Gatm (Glycine amidinotransferase, mitochondrial), nucleotide-binding oligomerization domain-containing protein 2, KRT12 and other genes implicated in adaptive immune convergence pathways have been subjected to gene editing, however there are very few publications. 31143069 2019
CUI: C0003076
Disease: Aniridia
Aniridia
0.010 AlteredExpression disease BEFREE We identified decreased PAX6 protein levels in aniridia patients in addition to decreased K12 mRNA levels compared to control cells. 29162348 2018
CUI: C0010034
Disease: Corneal Diseases
Corneal Diseases
0.010 Biomarker group BEFREE Gelsolin, cytokeratin 3, and cytokeratin 12 have previously been described to be involved in other corneal diseases. 16083875 2006
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
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 UNIPROT 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 UNIPROT 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 UNIPROT 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 UNIPROT 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 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 UNIPROT 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 A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. 10781519 2000
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 Biomarker disease GENOMICS_ENGLAND Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy. 22174841 2011
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease UNIPROT 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 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 UNIPROT 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 UNIPROT 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 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 Biomarker disease GENOMICS_ENGLAND
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GermlineCausalMutation disease ORPHANET Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997