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: rs1057516514
rs1057516514
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		T 0.700 GeneticVariation CLINVAR Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization. 10634420 2000
dbSNP: rs1057516587
rs1057516587
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516627
rs1057516627
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516725
rs1057516725
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		AT 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516790
rs1057516790
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516839
rs1057516839
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516891
rs1057516891
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517252
rs1057517252
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		G 0.700 GeneticVariation CLINVAR Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization. 10634420 2000
dbSNP: rs1057517252
rs1057517252
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		G 0.700 GeneticVariation CLINVAR Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation. 10571690 1999
dbSNP: rs1057517263
rs1057517263
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517279
rs1057517279
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1202737189
rs1202737189
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		0.010 GeneticVariation BEFREE The physiological relevance of cathepsin K complexes is supported by the findings that (i) the content of chondroitin sulfate present in bone and accessible to cathepsin K activity is sufficient for complex formation and (ii) Y212C, a cathepsin K mutant that causes pycnodysostosis (a bone sclerosing disorder) and that has no collagenase activity but remains potent as a gelatinase, is unable to form complexes. 12039963 2002
dbSNP: rs1553196764
rs1553196764
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		CAGCTGTAAGACCAATCAAGAAAA 0.700 GeneticVariation CLINVAR
dbSNP: rs1553196900
rs1553196900
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		T 0.700 GeneticVariation CLINVAR Mutations of the C-terminal end of cathepsin K affect proenzyme secretion and intracellular maturation. 11181082 2001
dbSNP: rs1553196906
rs1553196906
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		T 0.700 GeneticVariation CLINVAR Mutations of the C-terminal end of cathepsin K affect proenzyme secretion and intracellular maturation. 11181082 2001
dbSNP: rs1553196934
rs1553196934
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553196945
rs1553196945
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553197230
rs1553197230
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553197239
rs1553197239
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553197262
rs1553197262
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		G 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: rs29001685
rs29001685
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		G 0.800 GeneticVariation CLINVAR Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K). 21099701 2011
dbSNP: rs29001685
rs29001685
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		G 0.800 CausalMutation CLINVAR
dbSNP: rs29001685
rs29001685
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
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