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 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 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 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 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 BEFREE Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. 9008238 1997
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 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 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: 3854
Gene Symbol: KRT6B
KRT6B 		0.310 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: 4193
Gene Symbol: MDM2
MDM2 		0.010 Biomarker disease BEFREE The apoptotic cells in PC-2/swtp53 and PC-2/swtp53/pCMV-neo cell lines were 12.1%-12.9%, while the double transfected cell line, PC-2/swtp53/pCMV-MDM2, showed less (3.2%) apoptotic cells than its parent cell lines. 11263374 1998
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 CausalMutation disease CLINVAR
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.780 Biomarker disease CTD_human
Entrez Id: 3868
Gene Symbol: KRT16
KRT16 		0.500 Biomarker disease CTD_human
Entrez Id: 3854
Gene Symbol: KRT6B
KRT6B 		0.310 Biomarker disease CTD_human
Entrez Id: 3853
Gene Symbol: KRT6A
KRT6A 		0.300 Biomarker disease CTD_human
Entrez Id: 3868
Gene Symbol: KRT16
KRT16 		0.500 Biomarker disease MGD
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 missense mutation of keratin in Chinese family with steatocystoma multiplex. 19470054 2009
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 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 The genetic basis of pachyonychia congenita. 16250206 2005
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
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 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 UNIPROT Keratin 16 and keratin 17 mutations cause pachyonychia congenita. 7539673 1995