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 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 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 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 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 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 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 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 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 UNIPROT Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12. 23222558 2013
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
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 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 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 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 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 LHGDN 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 UNIPROT A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family. 18245975 2008
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 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
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
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 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 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 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 Novel K12 mutations were linked to Meesmann's corneal dystrophy in two different patients. 15148206 2004