Reduced visual acuity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Punctate opacification of the cornea
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Pterygium of eye
|
0.010 |
Biomarker
|
disease |
BEFREE |
In the pterygium there was a patchy distribution of both Krt12 and 13 up to a normal corneal epithelial region specific for Krt12.
|
19956562 |
2009 |
Pterygium Of Conjunctiva And Cornea
|
0.010 |
Biomarker
|
disease |
BEFREE |
In the pterygium there was a patchy distribution of both Krt12 and 13 up to a normal corneal epithelial region specific for Krt12.
|
19956562 |
2009 |
Pterygium
|
0.010 |
Biomarker
|
disease |
BEFREE |
In the pterygium there was a patchy distribution of both Krt12 and 13 up to a normal corneal epithelial region specific for Krt12.
|
19956562 |
2009 |
Photophobia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Nonprogressive
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
The IC3D classification of the corneal dystrophies.
|
19337156 |
2008 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
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 |
Microcysts
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In addition, we report four K12 mutations in Meesmann corneal epithelial dystrophy (MCD), an autosomal dominant disorder characterized by intraepithelial microcysts and corneal epithelial fragility in which mutations in keratin 3 (K3) and K12 have recently been implicated.
|
9399908 |
1997 |
Macular dystrophy, corneal type 1
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
In addition, two mutations in the helix initiation motif of K12 were found in families with MCD.
|
10644419 |
2000 |
Macular dystrophy, corneal type 1
|
0.050 |
GeneticVariation
|
disease |
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 |
Macular dystrophy, corneal type 1
|
0.050 |
GeneticVariation
|
disease |
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 |
Macular dystrophy, corneal type 1
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
This novel mutation (Ala137Pro) of the keratin 12 gene found in a Japanese family had caused MCD.
|
12543196 |
2003 |
Macular dystrophy, corneal type 1
|
0.050 |
Biomarker
|
disease |
BEFREE |
Missense mutations have now been identified within the region encoding the helix initiation motif of the K12 protein in eight of 11 MCD kindreds analysed at the molecular level.
|
10781519 |
2000 |
Keratoconus
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
KC can co-exist with GCD.The missense mutation (c.370G > A) in the TGFBI gene and insert mutation (c.1456-1457ins GAT) in the KRT12 gene were identified in a 23-year-old male patient with concurrent KC and GCD.
|
28567551 |
2017 |
Granular Dystrophy, Corneal
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
KC can co-exist with GCD.The missense mutation (c.370G > A) in the TGFBI gene and insert mutation (c.1456-1457ins GAT) in the KRT12 gene were identified in a 23-year-old male patient with concurrent KC and GCD.
|
28567551 |
2017 |
Excessive tearing
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.
|
26758872 |
2016 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel K12 mutations were linked to Meesmann's corneal dystrophy in two different patients.
|
15148206 |
2004 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.
|
20577595 |
2010 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel K12 mutations were linked to Meesmann's corneal dystrophy in two different patients.
|
15148206 |
2004 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.
|
16227835 |
2005 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.
|
12543196 |
2003 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.
|
10781519 |
2000 |