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: 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 Using a cell-culture assay of keratin filament formation, mutation Leu132Pro was shown to be significantly more disruptive than the most common mutation, Arg135Thr, which is associated with typical, mild MECD. 22174841 2011
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 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 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
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 BEFREE Using a cell-culture assay of keratin filament formation, mutation Leu132Pro was shown to be significantly more disruptive than the most common mutation, Arg135Thr, which is associated with typical, mild MECD. 22174841 2011
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 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
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 BEFREE Mass spectrometry (MS) and immunohistochemistry demonstrated a similarly altered keratin profile in corneal tissue from a K12-Leu132Pro MECD patient. 26758872 2016
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 BEFREE 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: C1636149
Disease:
Macular dystrophy, corneal type 1
0.010 GeneticVariation BEFREE Heterozygous missense mutations in K3 (E509K) and in K12 (V143L; R135T) completely co-segregated with MCD in the families and were not found in 100 normal unrelated chromosomes. 9171831 1997
dbSNP: rs58038639
rs58038639
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C1636149
Disease:
Macular dystrophy, corneal type 1
0.010 GeneticVariation BEFREE This novel mutation (Ala137Pro) of the keratin 12 gene found in a Japanese family had caused MCD. 12543196 2003
dbSNP: rs58162394
rs58162394
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C1636149
Disease:
Macular dystrophy, corneal type 1
0.010 GeneticVariation BEFREE In this study, four new K12 mutations (Arg135Gly, Arg135Ile, Tyr429Asp, and Leu140Arg) were identified in three unrelated MCD pedigrees and in one individual with MCD. 9399908 1997
dbSNP: rs58343600
rs58343600
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C1636149
Disease:
Macular dystrophy, corneal type 1
0.010 GeneticVariation BEFREE Heterozygous missense mutations in K3 (E509K) and in K12 (V143L; R135T) completely co-segregated with MCD in the families and were not found in 100 normal unrelated chromosomes. 9171831 1997
dbSNP: rs58918655
rs58918655
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C1636149
Disease:
Macular dystrophy, corneal type 1
0.010 GeneticVariation BEFREE In this study, four new K12 mutations (Arg135Gly, Arg135Ile, Tyr429Asp, and Leu140Arg) were identified in three unrelated MCD pedigrees and in one individual with MCD. 9399908 1997
dbSNP: rs59202432
rs59202432
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C1636149
Disease:
Macular dystrophy, corneal type 1
0.010 GeneticVariation 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
dbSNP: rs267607387
rs267607387
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0000772
Disease:
Multiple congenital anomalies
C 0.700 GeneticVariation CLINVAR 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: 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: 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 Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. 16227835 2005
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 of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. 17653038 2007
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 Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. 16352477 2005
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 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 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 as the basis for asymptomatic meesmann dystrophy in a Danish family. 18245975 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 Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997