Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2. 23278621

2013
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2. 23855588

2013
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT A large mutational study in pachyonychia congenita. 21326300

2011
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT Novel missense mutation of keratin in Chinese family with steatocystoma multiplex. 19470054

2009
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb. 18547302

2008
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. 17719747

2007
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation BEFREE In this report, we describe a missense mutation in the keratin 17 gene, M88T, in a Korean patient whose phenotype included early onset steatocystoma multiplex and Hutchinson-like tooth deformities along with other typical features of PC-2 such as hypertrophic nails, natal teeth and follicular hyperkeratosis. 16620218

2006
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. 16625196

2006
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT In this report, we describe a missense mutation in the keratin 17 gene, M88T, in a Korean patient whose phenotype included early onset steatocystoma multiplex and Hutchinson-like tooth deformities along with other typical features of PC-2 such as hypertrophic nails, natal teeth and follicular hyperkeratosis. 16620218

2006
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT Identification of a recurrent mutation in keratin 17 in a Japanese family with pachyonychia congenita type 2. 15795125

2005
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT The genetic basis of pachyonychia congenita. 16250206

2005
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2. 15102078

2004
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2. 11874497

2002
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. 11886499

2001
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT Novel keratin 17 mutations in pachyonychia congenita type 2. 11348474

2001
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation BEFREE In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2. 10571744

1999
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2. 10571744

1999
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. 9767294

1998
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. 9008238

1997
dbSNP: rs28928898
rs28928898
KRT17
0.820 GeneticVariation UNIPROT Keratin 16 and keratin 17 mutations cause pachyonychia congenita. 7539673

1995
dbSNP: rs28928898
rs28928898
KRT17
G 0.820 CausalMutation CLINVAR

dbSNP: rs59151893
rs59151893
KRT17
0.810 GeneticVariation UNIPROT Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2. 23855588

2013
dbSNP: rs59151893
rs59151893
KRT17
0.810 GeneticVariation UNIPROT A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2. 23278621

2013
dbSNP: rs59151893
rs59151893
KRT17
0.810 GeneticVariation UNIPROT A large mutational study in pachyonychia congenita. 21326300

2011
dbSNP: rs59151893
rs59151893
KRT17
0.810 GeneticVariation BEFREE Here, an N92S (p.Asn92Ser) germline keratin 17 gene mutation in a pachyonychia congenita type 2 female patient is presented. 19107515

2009