DisGeNET - a database of gene-disease associations

KRT12, keratin 12, 3859

N. diseases: 18; N. variants: 15

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs58410481

Entrez Id:	3859;105371777
Gene Symbol:	KRT12;LOC105371777

KRT12;LOC105371777

CUI:	C0339277
Disease:

Corneal Dystrophy, Juvenile Epithelial of Meesmann

0.700

GeneticVariation

UNIPROT

dbSNP:

rs59350319

Entrez Id:	3859;105371777
Gene Symbol:	KRT12;LOC105371777

KRT12;LOC105371777

CUI:	C0339277
Disease:

Corneal Dystrophy, Juvenile Epithelial of Meesmann

0.700

GeneticVariation

UNIPROT

dbSNP:

rs61282718

Entrez Id:	3859;105371777
Gene Symbol:	KRT12;LOC105371777

KRT12;LOC105371777

CUI:	C0339277
Disease:

Corneal Dystrophy, Juvenile Epithelial of Meesmann

0.700

GeneticVariation

UNIPROT

dbSNP:

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:

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:

rs267607386

Entrez Id:	3859;105371777
Gene Symbol:	KRT12;LOC105371777

KRT12;LOC105371777

CUI:	C0339277
Disease:

Corneal Dystrophy, Juvenile Epithelial of Meesmann

0.710

GeneticVariation

UNIPROT

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.

9171831

1997

dbSNP:

rs58038639

Entrez Id:	3859;105371777
Gene Symbol:	KRT12;LOC105371777

KRT12;LOC105371777

CUI:	C0339277
Disease:

Corneal Dystrophy, Juvenile Epithelial of Meesmann

0.710

GeneticVariation

UNIPROT

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.

9171831

1997

dbSNP:

rs267607387

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

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:

rs58162394

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:

rs58343600

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:

rs58864803

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:

rs58918655

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:

rs59202432

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:

rs62635290

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:

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:

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:

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

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

Entrez Id:	3859;105371777
Gene Symbol:	KRT12;LOC105371777

KRT12;LOC105371777

CUI:	C0339277
Disease:

Corneal Dystrophy, Juvenile Epithelial of Meesmann

0.710

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:

rs58038639

Entrez Id:	3859;105371777
Gene Symbol:	KRT12;LOC105371777

KRT12;LOC105371777

CUI:	C0339277
Disease:

Corneal Dystrophy, Juvenile Epithelial of Meesmann

0.710

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:

rs267607387

Entrez Id:	3859;105371777
Gene Symbol:	KRT12;LOC105371777

KRT12;LOC105371777

CUI:	C0000772
Disease:

Multiple congenital anomalies

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

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

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:

rs58162394

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