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: 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 		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
dbSNP: rs74315304
rs74315304
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.810 GeneticVariation CLINVAR A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin. 19674475 2009
dbSNP: rs74315304
rs74315304
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.810 GeneticVariation CLINVAR Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis. 22822386 2012
dbSNP: rs74315304
rs74315304
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
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
dbSNP: rs1057516790
rs1057516790
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553196945
rs1553196945
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1557823855
rs1557823855
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs202040269
rs202040269
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. 10074491 1999
dbSNP: rs371277428
rs371277428
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K. 17206399 2007
dbSNP: rs371277428
rs371277428
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis. 24269275 2014
dbSNP: rs371277428
rs371277428
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR Pycnodysostosis: mutation spectrum in five unrelated Indian children. 27092432 2016
dbSNP: rs375958814
rs375958814
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. 24767306 2014
dbSNP: rs375958814
rs375958814
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR Mutations of the C-terminal end of cathepsin K affect proenzyme secretion and intracellular maturation. 11181082 2001
dbSNP: rs74315303
rs74315303
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online. 17397052 2007
dbSNP: rs74315303
rs74315303
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis. 8938428 1996
dbSNP: rs74315303
rs74315303
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation. 10571690 1999
dbSNP: rs74315303
rs74315303
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs74315303
rs74315303
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR Challenges in the orthodontic treatment of a patient with pycnodysostosis. 23786531 2014
dbSNP: rs74315303
rs74315303
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. 10074491 1999
dbSNP: rs74315303
rs74315303
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR Cathepsin K deficiency in pycnodysostosis results in accumulation of non-digested phagocytosed collagen in fibroblasts. 12874701 2003
dbSNP: rs74315303
rs74315303
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. 8703060 1996
dbSNP: rs74315303
rs74315303
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR This article presents the case of a male patient, Caucasian, age 9 years and 11 months suffer from pycnodysostosis, mutation of the gene in heterozygotes p.R241X, already followed at the Pediatric Endocrinology Clinic of the Spedali Civili of Brescia. 21217630 2011
dbSNP: rs74315306
rs74315306
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 CausalMutation CLINVAR