Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease UNIPROT A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2. 23278621 2013
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease UNIPROT Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2. 23855588 2013
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 Biomarker disease GENOMICS_ENGLAND Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita. 22336949 2012
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease UNIPROT A large mutational study in pachyonychia congenita. 21326300 2011
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease UNIPROT Novel missense mutation of keratin in Chinese family with steatocystoma multiplex. 19470054 2009
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease BEFREE Here, an N92S (p.Asn92Ser) germline keratin 17 gene mutation in a pachyonychia congenita type 2 female patient is presented. 19107515 2009
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 Biomarker disease GENOMICS_ENGLAND Steatocystoma multiplex, oligodontia and partial persistent primary dentition associated with a novel keratin 17 mutation. 19659471 2009
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease 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
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease UNIPROT A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. 17719747 2007
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease UNIPROT DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. 16625196 2006
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease BEFREE It has been demonstrated that PC-2 is caused by mutations in the keratin 17 and keratin 6b genes. 16620218 2006
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease 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
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease UNIPROT The genetic basis of pachyonychia congenita. 16250206 2005
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease UNIPROT Identification of a recurrent mutation in keratin 17 in a Japanese family with pachyonychia congenita type 2. 15795125 2005
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease 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
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease BEFREE 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
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease BEFREE Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts. 12653736 2003
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease UNIPROT A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2. 11874497 2002
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease BEFREE Here, we report three novel heterozygous mutations in the K17 gene (KRT17A) in patients presenting with pachyonychia congenita type 2. 11348474 2001
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease UNIPROT Here, we report three novel heterozygous mutations in the K17 gene (KRT17A) in patients presenting with pachyonychia congenita type 2. 11348474 2001
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease UNIPROT Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. 11886499 2001
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease BEFREE In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2. 10571744 1999
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease UNIPROT In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2. 10571744 1999
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease BEFREE Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. 9767294 1998
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 GeneticVariation disease UNIPROT Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. 9767294 1998