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: rs886038212
rs886038212
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.730 GeneticVariation UNIPROT Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. 12543196 2003
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 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: 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 keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. 10781519 2000
dbSNP: rs886038212
rs886038212
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.730 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: rs886038212
rs886038212
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 keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. 10781519 2000
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 Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
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 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: rs886038212
rs886038212
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.730 GeneticVariation UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
dbSNP: rs886038212
rs886038212
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.730 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: rs267607386
rs267607386
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 GeneticVariation UNIPROT KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy. 24099278 2014
dbSNP: rs58038639
rs58038639
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 GeneticVariation UNIPROT KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy. 24099278 2014
dbSNP: rs267607386
rs267607386
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 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: rs58038639
rs58038639
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 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: rs267607386
rs267607386
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 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: rs58038639
rs58038639
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 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: rs267607386
rs267607386
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 GeneticVariation UNIPROT The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused MECD. 18661274 2008
dbSNP: rs267607386
rs267607386
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 GeneticVariation UNIPROT A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family. 18245975 2008
dbSNP: rs267607386
rs267607386
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 GeneticVariation BEFREE The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused MECD. 18661274 2008
dbSNP: rs58038639
rs58038639
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 GeneticVariation UNIPROT A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family. 18245975 2008
dbSNP: rs58038639
rs58038639
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 GeneticVariation UNIPROT A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. 18661274 2008
dbSNP: rs267607386
rs267607386
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 GeneticVariation UNIPROT A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. 17653038 2007
dbSNP: rs58038639
rs58038639
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 GeneticVariation UNIPROT A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. 17653038 2007
dbSNP: rs267607386
rs267607386
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 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: rs267607386
rs267607386
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 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: rs58038639
rs58038639
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 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