Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62635290
rs62635290
0.700 GeneticVariation UNIPROT KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy. 24099278

2014

dbSNP: rs62635290
rs62635290
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: rs62635290
rs62635290
0.700 GeneticVariation UNIPROT Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family. 20577595

2010

dbSNP: rs62635290
rs62635290
0.700 GeneticVariation UNIPROT A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. 18661274

2008

dbSNP: rs62635290
rs62635290
0.700 GeneticVariation UNIPROT A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family. 18245975

2008

dbSNP: rs62635290
rs62635290
0.700 GeneticVariation UNIPROT A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. 17653038

2007

dbSNP: rs62635290
rs62635290
0.700 GeneticVariation UNIPROT Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. 16352477

2005

dbSNP: rs62635290
rs62635290
0.700 GeneticVariation UNIPROT Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. 16227835

2005

dbSNP: rs62635290
rs62635290
0.700 GeneticVariation UNIPROT A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy. 15148206

2004

dbSNP: rs62635290
rs62635290
0.700 GeneticVariation UNIPROT Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. 12543196

2003

dbSNP: rs62635290
rs62635290
0.700 GeneticVariation UNIPROT Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. 10644419

2000

dbSNP: rs62635290
rs62635290
0.700 GeneticVariation UNIPROT A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. 10781519

2000

dbSNP: rs62635290
rs62635290
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: rs62635290
rs62635290
0.700 GeneticVariation UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831

1997