Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 Biomarker disease GENOMICS_ENGLAND
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 Biomarker disease CTD_human
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 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 Biomarker disease GENOMICS_ENGLAND A gene expression profile of human corneal epithelium and the isolation of human keratin 12 cDNA. 8759347 1996
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 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 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 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 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 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 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 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 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 LHGDN 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 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 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 UNIPROT 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 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 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 Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
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
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation disease UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997