KRT12, keratin 12, 3859

N. diseases: 18; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.010 Biomarker disease BEFREE We are beginning to see its application in gene manipulation of sickle cell disease, human immunodeficiency virus resistant embryologic twin gene modification and IBD genes such as Gatm (Glycine amidinotransferase, mitochondrial), nucleotide-binding oligomerization domain-containing protein 2, KRT12 and other genes implicated in adaptive immune convergence pathways have been subjected to gene editing, however there are very few publications. 31143069 2019
CUI: C0003076
Disease: Aniridia
Aniridia 		0.010 AlteredExpression disease BEFREE We identified decreased PAX6 protein levels in aniridia patients in addition to decreased K12 mRNA levels compared to control cells. 29162348 2018
CUI: C0018179
Disease: Granular Dystrophy, Corneal
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
CUI: C0022578
Disease: Keratoconus
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
CUI: C0033999
Disease: Pterygium
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
CUI: C1867441
Disease: Pterygium Of Conjunctiva And Cornea
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
CUI: C4520843
Disease: Pterygium of eye
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
CUI: C0010034
Disease: Corneal Diseases
Corneal Diseases 		0.010 Biomarker group BEFREE Gelsolin, cytokeratin 3, and cytokeratin 12 have previously been described to be involved in other corneal diseases. 16083875 2006
CUI: C1513269
Disease: Microcysts
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
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
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
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
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
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
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
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
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
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR The IC3D classification of the corneal dystrophies. 19337156 2008
CUI: C0000772
Disease: Multiple congenital anomalies
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
CUI: C0085636
Disease: Photophobia
Photophobia 		0.100 Biomarker phenotype HPO
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		0.100 Biomarker disease HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.100 Biomarker phenotype HPO
CUI: C3839460
Disease: Nonprogressive
Nonprogressive 		0.100 Biomarker phenotype HPO
CUI: C4021565
Disease: Punctate opacification of the cornea
Punctate opacification of the cornea 		0.100 Biomarker phenotype HPO
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.110 GeneticVariation disease BEFREE We have identified a novel missense mutation within the highly conserved helix-initiation motif of KRT12 causing Meesmann;s corneal dystrophy in a German family. 20577595 2010
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.110 Biomarker disease HPO
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation disease BEFREE We identified a heterozygous genetic mutation (c.394 C>G, p.L132V) in the KRT12 gene in six Japanese patients with inherited Meesmann corneal dystrophy. 30535821 2019
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
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