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: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 Biomarker disease CTD_human
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.110 Biomarker disease HPO
CUI: C0085636
Disease: Photophobia
Photophobia 		0.100 Biomarker phenotype HPO
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		0.100 Biomarker disease HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.100 Biomarker phenotype HPO
CUI: C3839460
Disease: Nonprogressive
Nonprogressive 		0.100 Biomarker phenotype HPO
CUI: C4021565
Disease: Punctate opacification of the cornea
Punctate opacification of the cornea 		0.100 Biomarker phenotype HPO
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
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: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
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: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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