CTSC, cathepsin C, 1075

N. diseases: 139; N. variants: 23
Disease: Periodontal Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases 		0.330 GeneticVariation group BEFREE Papillon-Lefèvre syndrome (PLS) has recently been shown to be caused by mutations in the cathepsin C gene resulting in periodontal disease and palmoplantar keratosis. 11180601 2001
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases 		0.330 Biomarker group CTD_human Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. 10662807 2000
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases 		0.330 GeneticVariation group BEFREE Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. 10581027 1999
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases 		0.330 Biomarker group BEFREE A more complete understanding of the functional physiology of cathepsin C carries significant implications for understanding normal and abnormal skin development and periodontal disease susceptibility. 10593994 1999