×
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
MGD
×
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:
3872
Gene Symbol:
KRT17
KRT17
0.780
GeneticVariation
disease
UNIPROT
Keratin 16 and keratin 17 mutations cause pachyonychia congenita.
7539673
1995
×
Entrez Id:
3872
Gene Symbol:
KRT17
KRT17
0.780
Biomarker
disease
GENOMICS_ENGLAND
Eruptive vellus hair cyst and steatocystoma multiplex in a patient with pachyonychia congenita.
8288793
1994
×
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
UNIPROT
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 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
×
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:
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
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
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
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
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 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
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
The genetic basis of pachyonychia congenita.
16250206
2005
×
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