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: rs773943327
rs773943327
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs778368118
rs778368118
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs780202604
rs780202604
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs781168584
rs781168584
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		T 0.700 GeneticVariation CLINVAR
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: rs74315302
rs74315302
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 		0.800 GeneticVariation UNIPROT 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 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 A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis. 8938428 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 		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: rs74315302
rs74315302
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 Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. 9529353 1998
dbSNP: rs74315304
rs74315304
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0029422
Disease:
Osteochondrodysplasias 		0.010 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: C0410528
Disease:
Skeletal dysplasia 		0.010 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 		A 0.810 GeneticVariation CLINVAR Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. 10074491 1999
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: rs375958814
rs375958814
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis 		C 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 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 		0.810 GeneticVariation UNIPROT Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein. 10491211 1999
dbSNP: rs74315302
rs74315302
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 Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein. 10491211 1999
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: 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