rs57218384
|
KRT12;LOC105371777
|
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 |
rs886038212
|
KRT12;LOC105371777
|
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 |
rs57218384
|
KRT12;LOC105371777
|
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 |
rs58038639
|
KRT12;LOC105371777
|
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 |
rs267607386
|
KRT12;LOC105371777
|
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 |
rs267607386
|
KRT12;LOC105371777
|
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 |
rs267607387
|
KRT12;LOC105371777
|
Multiple congenital anomalies
|
C |
0.700 |
GeneticVariation |
CLINVAR |
The IC3D classification of the corneal dystrophies.
|
19337156 |
2008 |
rs57218384
|
KRT12;LOC105371777
|
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 |
rs57218384
|
KRT12;LOC105371777
|
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 |
rs886038212
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.
|
23222558 |
2013 |
rs267607386
|
KRT12;LOC105371777
|
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 |
rs58038639
|
KRT12;LOC105371777
|
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 |
rs267607387
|
KRT12;LOC105371777
|
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 |
rs28936695
|
KRT12;LOC105371777
|
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 |
rs58162394
|
KRT12;LOC105371777
|
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 |
rs58343600
|
KRT12;LOC105371777
|
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 |
rs58864803
|
KRT12;LOC105371777
|
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 |
rs58918655
|
KRT12;LOC105371777
|
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 |
rs59202432
|
KRT12;LOC105371777
|
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 |
rs62635290
|
KRT12;LOC105371777
|
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 |
rs57218384
|
KRT12;LOC105371777
|
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 |
rs886038212
|
KRT12;LOC105371777
|
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 |
rs267607386
|
KRT12;LOC105371777
|
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 |
rs58038639
|
KRT12;LOC105371777
|
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 |
rs267607387
|
KRT12;LOC105371777
|
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 |