CTSC, cathepsin C, 1075

N. diseases: 139; N. variants: 23
Disease: Aggressive periodontitis, generalized ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.020 GeneticVariation disease BEFREE Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by palmoplantar keratoderma together with a severe form of generalized aggressive periodontitis and associated with mutations in cathepsin C gene (CTSC). 23108224 2012
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.020 GeneticVariation disease BEFREE The results support the hypothesis that CTSC gene variants contribute to increased susceptibility in generalized aggressive periodontitis. 18809751 2008