KRT12, keratin 12, 3859

N. diseases: 18; N. variants: 15
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation disease UNIPROT Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. 16227835 2005
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation disease UNIPROT Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12. 23222558 2013
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation disease LHGDN The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused MECD. 18661274 2008
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation disease UNIPROT We have identified a novel mutation in the KRT12 gene that is associated with a symptomatic phenotype of Meesmann's corneal dystrophy. 17653038 2007
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation disease LHGDN We have identified a novel mutation in the KRT12 gene that is associated with a symptomatic phenotype of Meesmann's corneal dystrophy. 17653038 2007
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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