CTSK, cathepsin K, 1513

N. diseases: 221; N. variants: 36
Disease: Bone Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		0.040 AlteredExpression group BEFREE Mutation in CTSK gene is associated with loss of collagenolytic activity of CTSK leading to an autosomal recessive bone disorder called pycnodysostosis. 30199612 2018
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		0.040 GeneticVariation group BEFREE Mutations in the CTSK gene cause a rare autosomal recessive bone disorder called pycnodysostosis (OMIM 265800). 21569238 2011
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		0.040 Biomarker group BEFREE Cathepsin K: a therapeutic target for bone diseases. 19338743 2009
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		0.040 Biomarker group BEFREE This review highlights the importance of genes such as cathepsin K in understanding bone remodelling and illustrates a new trend towards understanding bone disease as a complete entity rather than as a series of unrelated disorders. 10469835 1999