Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57448541
rs57448541
KRT6A
0.700 GeneticVariation UNIPROT Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma. 22668561

2013
dbSNP: rs57448541
rs57448541
KRT6A
0.700 GeneticVariation UNIPROT A large mutational study in pachyonychia congenita. 21326300

2011
dbSNP: rs57448541
rs57448541
KRT6A
0.700 GeneticVariation UNIPROT Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1. 19416275

2009
dbSNP: rs57448541
rs57448541
KRT6A
0.700 GeneticVariation UNIPROT Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families. 18489596

2008
dbSNP: rs57448541
rs57448541
KRT6A
0.700 GeneticVariation UNIPROT A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. 17719747

2007
dbSNP: rs57448541
rs57448541
KRT6A
0.700 GeneticVariation UNIPROT A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1. 17309457

2007
dbSNP: rs57448541
rs57448541
KRT6A
0.700 GeneticVariation UNIPROT The genetic basis of pachyonychia congenita. 16250206

2005
dbSNP: rs57448541
rs57448541
KRT6A
0.700 GeneticVariation UNIPROT A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a. 15840119

2005
dbSNP: rs57448541
rs57448541
KRT6A
0.700 GeneticVariation UNIPROT [A de nono I462S mutation in the KRT6A gene is associated with pachyonychia congenita type I]. 15387942

2004
dbSNP: rs57448541
rs57448541
KRT6A
0.700 GeneticVariation UNIPROT Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. 11886499

2001
dbSNP: rs57448541
rs57448541
KRT6A
0.700 GeneticVariation UNIPROT A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1. 10232400

1999
dbSNP: rs57448541
rs57448541
KRT6A
0.700 GeneticVariation UNIPROT Mutation of a type II keratin gene (K6a) in pachyonychia congenita. 7545493

1995