CTSK, cathepsin K, 1513

N. diseases: 221; N. variants: 36
Disease: Osteosclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		0.110 GeneticVariation disease BEFREE The increased bone density is due to a genetic defect of cathepsin K, leading to dysfunctional osteoclastic bone resorption and bone remodeling. 17206399 2007
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		0.110 Biomarker disease HPO