DisGeNET - a database of gene-disease associations

CTSK, cathepsin K, 1513

N. diseases: 221; N. variants: 36

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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

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:

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

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:

rs29001685

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.800

CausalMutation

CLINVAR

dbSNP:

rs29001685

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.800

GeneticVariation

UNIPROT

dbSNP:

rs74315302

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.800

CausalMutation

CLINVAR

dbSNP:

rs74315305

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.800

CausalMutation

CLINVAR

dbSNP:

rs371277428

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.700

GeneticVariation

CLINVAR

Pycnodysostosis: mutation spectrum in five unrelated Indian children.

27092432

2016

dbSNP:

rs371277428

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.700

GeneticVariation

CLINVAR

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.

24269275

2014

dbSNP:

rs375958814

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.700

GeneticVariation

CLINVAR

Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.

24767306

2014

dbSNP:

rs74315303

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.700

GeneticVariation

CLINVAR

Challenges in the orthodontic treatment of a patient with pycnodysostosis.

23786531

2014

dbSNP:

rs778368118

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.700

GeneticVariation

CLINVAR

Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.

24767306

2014

dbSNP:

rs74315303

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

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:

rs371277428

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.700

GeneticVariation

CLINVAR

High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.

17206399

2007

dbSNP:

rs74315303

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

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:

rs375958814

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.700

GeneticVariation

CLINVAR

Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis.

15070910

2004

dbSNP:

rs74315303

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.700

GeneticVariation

CLINVAR

Cathepsin K deficiency in pycnodysostosis results in accumulation of non-digested phagocytosed collagen in fibroblasts.

12874701

2003

dbSNP:

rs1553196900

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.700

GeneticVariation

CLINVAR

Mutations of the C-terminal end of cathepsin K affect proenzyme secretion and intracellular maturation.

11181082

2001

dbSNP:

rs1553196906

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.700

GeneticVariation

CLINVAR

Mutations of the C-terminal end of cathepsin K affect proenzyme secretion and intracellular maturation.

11181082

2001

dbSNP:

rs375958814

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.700

GeneticVariation

CLINVAR

Mutations of the C-terminal end of cathepsin K affect proenzyme secretion and intracellular maturation.

11181082

2001

dbSNP:

rs1057516514

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.700

GeneticVariation

CLINVAR

Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization.

10634420

2000

dbSNP:

rs1057517252

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.700

GeneticVariation

CLINVAR

Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization.

10634420

2000

dbSNP:

rs1057517252

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.700

GeneticVariation

CLINVAR

Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation.

10571690

1999

dbSNP:

rs202040269

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C0238402
Disease:

Pycnodysostosis

0.700

GeneticVariation

CLINVAR

Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.

10074491

1999