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 BEFREE Mass spectrometry (MS) and immunohistochemistry demonstrated a similarly altered keratin profile in corneal tissue from a K12-Leu132Pro MECD patient. 26758872 2016
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: 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: 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 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 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: 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 KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy. 24099278 2014
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: rs58162394
rs58162394
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: rs58343600
rs58343600
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: rs58864803
rs58864803
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: rs58918655
rs58918655
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: rs59202432
rs59202432
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: rs62635290
rs62635290
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 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: 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 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: 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 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 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: 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 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 Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12. 23222558 2013
dbSNP: rs58162394
rs58162394
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: rs58343600
rs58343600
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: rs58864803
rs58864803
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