KRT12, keratin 12, 3859

N. diseases: 18; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607387
rs267607387
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy. 15148206 2004
dbSNP: rs267607387
rs267607387
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. 17653038 2007
dbSNP: rs267607387
rs267607387
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR The IC3D classification of the corneal dystrophies. 19337156 2008
dbSNP: rs267607387
rs267607387
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family. 20577595 2010
dbSNP: rs267607387
rs267607387
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family. 18245975 2008
dbSNP: rs267607387
rs267607387
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. 16352477 2005
dbSNP: rs28936695
rs28936695
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation 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
dbSNP: rs28936695
rs28936695
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. 16227835 2005
dbSNP: rs28936695
rs28936695
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family. 18245975 2008
dbSNP: rs28936695
rs28936695
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy. 15148206 2004
dbSNP: rs28936695
rs28936695
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. 18661274 2008
dbSNP: rs28936695
rs28936695
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. 10781519 2000
dbSNP: rs28936695
rs28936695
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family. 20577595 2010
dbSNP: rs28936695
rs28936695
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. 12543196 2003
dbSNP: rs28936695
rs28936695
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
dbSNP: rs28936695
rs28936695
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. 16352477 2005
dbSNP: rs28936695
rs28936695
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12. 23222558 2013
dbSNP: rs28936695
rs28936695
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. 17653038 2007
dbSNP: rs28936695
rs28936695
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. 9399908 1997
dbSNP: rs28936695
rs28936695
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy. 24099278 2014
dbSNP: rs57218384
rs57218384
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.730 GeneticVariation UNIPROT A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. 18661274 2008
dbSNP: rs57218384
rs57218384
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.730 GeneticVariation UNIPROT KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy. 24099278 2014
dbSNP: rs57218384
rs57218384
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.730 GeneticVariation UNIPROT The clinical effects are markedly more severe than the phenotype usually associated with the Arg135Thr mutation within this motif, most frequently seen in European patients with MECD. 23222558 2013
dbSNP: rs57218384
rs57218384
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.730 GeneticVariation UNIPROT Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family. 20577595 2010
dbSNP: rs57218384
rs57218384
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.730 GeneticVariation BEFREE To identify an allele-specific short interfering RNA (siRNA), against the common KRT12 mutation Arg135Thr in Meesmann epithelial corneal dystrophy (MECD) as a personalized approach to treatment. 23233254 2013