rs74315304
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
0.810
GeneticVariation
UNIPROT
Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.
25731711
2015
rs74315304
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
A
0.810
GeneticVariation
CLINVAR
Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.
22822386
2012
rs74315304
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
0.810
GeneticVariation
UNIPROT
Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.
22822386
2012
rs74315304
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
A
0.810
GeneticVariation
CLINVAR
Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.
21569238
2011
rs74315304
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
A
0.810
GeneticVariation
CLINVAR
A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.
19674475
2009
rs74315304
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
A
0.810
GeneticVariation
CLINVAR
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.
17397052
2007
rs74315304
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
A
0.810
GeneticVariation
CLINVAR
Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization.
10634420
2000
rs74315304
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
0.810
GeneticVariation
UNIPROT
Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population.
10878663
2000
rs74315304
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
0.810
GeneticVariation
UNIPROT
Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein.
10491211
1999
rs74315304
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
A
0.810
GeneticVariation
CLINVAR
Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.
10074491
1999
rs74315304
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
0.810
GeneticVariation
UNIPROT
Molecular analysis of a patient affected by the autosomal recessive skeletal dysplasia, pycnodysostosis (cathepsin K deficiency; MIM 265800), revealed homozygosity for a novel missense mutation (A277V ).
9529353
1998
rs74315304
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
A
0.810
GeneticVariation
CLINVAR
Molecular analysis of a patient affected by the autosomal recessive skeletal dysplasia, pycnodysostosis (cathepsin K deficiency; MIM 265800), revealed homozygosity for a novel missense mutation (A277V ).
9529353
1998
rs74315304
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
0.810
GeneticVariation
BEFREE
Molecular analysis of a patient affected by the autosomal recessive skeletal dysplasia, pycnodysostosis (cathepsin K deficiency; MIM 265800), revealed homozygosity for a novel missense mutation (A277V ).
9529353
1998
rs74315304
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
0.810
GeneticVariation
UNIPROT
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.
8703060
1996
rs74315304
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
A
0.810
CausalMutation
CLINVAR
rs74315302
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
0.800
GeneticVariation
UNIPROT
Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.
25731711
2015
rs74315305
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
0.800
GeneticVariation
UNIPROT
Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.
25731711
2015
rs74315302
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
0.800
GeneticVariation
UNIPROT
Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.
22822386
2012
rs74315305
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
0.800
GeneticVariation
UNIPROT
Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.
22822386
2012
rs29001685
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
G
0.800
GeneticVariation
CLINVAR
Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K).
21099701
2011
rs29001685
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
G
0.800
GeneticVariation
CLINVAR
We found two new mutations and one recently described mutation in the cathepsin K gene by sequencing DNA from eight patients with pycnodysostosis : a one base transition in exon8, c926T > C, causing a single amino acid substitution leucine-->proline, L309P ; A 3' splice site mutation in intron 2, c121-1G > A, causing deletion of all exon 3, 41V-81Mdel; and the exon 3 missense mutation c236G > A leading to residue G79E.
10878663
2000
rs74315302
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
0.800
GeneticVariation
UNIPROT
Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population.
10878663
2000
rs74315305
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
0.800
GeneticVariation
UNIPROT
We found two new mutations and one recently described mutation in the cathepsin K gene by sequencing DNA from eight patients with pycnodysostosis : a one base transition in exon8, c926T > C, causing a single amino acid substitution leucine-->proline, L309P; A 3' splice site mutation in intron 2, c121-1G > A, causing deletion of all exon 3, 41V-81Mdel; and the exon 3 missense mutation c236G > A leading to residue G79E .
10878663
2000
rs74315302
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
0.800
GeneticVariation
UNIPROT
Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein.
10491211
1999
rs74315305
×
Entrez Id:
1513
Gene Symbol:
CTSK
CTSK
Pycnodysostosis
0.800
GeneticVariation
UNIPROT
Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein.
10491211
1999