CTSK, cathepsin K, 1513

N. diseases: 221; N. variants: 36
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781168584
rs781168584
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs780202604
rs780202604
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs778368118
rs778368118
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		T 0.700 GeneticVariation CLINVAR Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. 24767306 2014
dbSNP: rs778368118
rs778368118
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs773943327
rs773943327
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs758450569
rs758450569
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		ATT 0.700 GeneticVariation CLINVAR
dbSNP: rs75481239
rs75481239
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs74315306
rs74315306
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs74315305
rs74315305
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		0.800 GeneticVariation UNIPROT Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. 8703060 1996
dbSNP: rs74315305
rs74315305
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		T 0.800 CausalMutation CLINVAR
dbSNP: rs74315305
rs74315305
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		0.800 GeneticVariation UNIPROT Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis. 22822386 2012
dbSNP: rs74315305
rs74315305
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		0.800 GeneticVariation UNIPROT Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. 9529353 1998
dbSNP: rs74315305
rs74315305
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		0.800 GeneticVariation UNIPROT Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein. 10491211 1999
dbSNP: rs74315305
rs74315305
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		0.800 GeneticVariation UNIPROT Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations. 25731711 2015
dbSNP: rs74315305
rs74315305
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
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
dbSNP: rs74315304
rs74315304
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.810 GeneticVariation CLINVAR Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization. 10634420 2000
dbSNP: rs74315304
rs74315304
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		0.810 GeneticVariation UNIPROT Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. 8703060 1996
dbSNP: rs74315304
rs74315304
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
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
dbSNP: rs74315304
rs74315304
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
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
dbSNP: rs74315304
rs74315304
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.810 CausalMutation CLINVAR
dbSNP: rs74315304
rs74315304
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		0.810 GeneticVariation UNIPROT Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein. 10491211 1999
dbSNP: rs74315304
rs74315304
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
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
dbSNP: rs74315304
rs74315304
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		0.810 GeneticVariation UNIPROT Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population. 10878663 2000
dbSNP: rs74315304
rs74315304
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
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
dbSNP: rs74315304
rs74315304
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.810 GeneticVariation CLINVAR Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. 10074491 1999