Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		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
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease BEFREE Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy. 26758872 2016
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease BEFREE We present a novel KRT12 mutation, representing the first de novo mutation and the first indel in KRT12 associated with MECD. 26788030 2015
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease UNIPROT We identified a novel missense mutation of the KRT12 gene in Meesmann corneal dystrophy. 24099278 2014
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease BEFREE We identified a novel missense mutation of the KRT12 gene in Meesmann corneal dystrophy. 24099278 2014
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease 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
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease BEFREE To date, all reported cases of MECD have been associated with either a single mutation in one exon of the keratin-3 gene (KRT3) or a single mutation in one of two exons of the keratin-12 gene (KRT12). 23569037 2013
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease BEFREE Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy. 23233254 2013
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease UNIPROT Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12. 23222558 2013
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease BEFREE Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12. 23222558 2013
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 Biomarker disease GENOMICS_ENGLAND Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy. 22174841 2011
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		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
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease BEFREE Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family. 20577595 2010
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease UNIPROT The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused MECD. 18661274 2008
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease BEFREE The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused MECD. 18661274 2008
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease UNIPROT A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family. 18245975 2008
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease LHGDN The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused MECD. 18661274 2008
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease BEFREE We have identified a novel mutation in the KRT12 gene that is associated with a symptomatic phenotype of Meesmann's corneal dystrophy. 17653038 2007
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease UNIPROT We have identified a novel mutation in the KRT12 gene that is associated with a symptomatic phenotype of Meesmann's corneal dystrophy. 17653038 2007
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease LHGDN We have identified a novel mutation in the KRT12 gene that is associated with a symptomatic phenotype of Meesmann's corneal dystrophy. 17653038 2007
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		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
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease UNIPROT Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. 16352477 2005
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease UNIPROT Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. 16227835 2005
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease BEFREE Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. 16352477 2005
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.700 GeneticVariation disease BEFREE Novel K12 mutations were linked to Meesmann's corneal dystrophy in two different patients. 15148206 2004