CTSC, cathepsin C, 1075

N. diseases: 139; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 Biomarker disease BEFREE DPYS and CTSC were found to be associated with dihydropyrimidinuria and Papillon-Lefevre syndrome phenotypes using OMIM. 20797317 2010
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome. 20236208 2010
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Haim Munk syndrome and Papillon Lefevre syndrome--allelic mutations in cathepsin C with variation in phenotype. 20534088 2010
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome. 19816003 2009
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Cathepsin C (CTSC) mutations are known to cause Papillon-Lefèvre syndrome. 18809751 2008
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome. 17943190 2008
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease LHGDN Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome. 17943190 2008
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE This study aimed to identify CTSC mutations in different PLS phenotypes, including atypical forms and isolated pre-pubertal aggressive periodontitis (PAP). 18294227 2008
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease LHGDN Mutations of the cathepsin C gene are probably responsible for the phenotype of Papillon-Lefevre syndrome in this family. 18841559 2008
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Mutations of the lysosomal protease cathepsin C (CTSC) gene have been shown to be the genetic cause of Papillon-Lefèvre syndrome. 17652201 2007
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease LHGDN Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome. 17652201 2007
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE This study reports two novel deletion mutation of the CTSC gene in two Indian families with PLS. 16460249 2006
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GermlineCausalMutation disease ORPHANET Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome. 16460249 2006
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE The aim of the study was to identify underlying cathepsin C mutations in 39 subjects with Papillon-Lefèvre syndrome and to explore any phenotypic associations. 16585980 2006
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 Biomarker disease BEFREE In mice, cathepsin C is required for granzyme processing and normal NK cell cytolytic function, whereas in patients with Papillon-Lefèvre syndrome (PLS), loss-of-function mutations in cathepsin C do not affect lymphokine activated killer (LAK) cell function. 16410452 2006
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease UNIPROT Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome. 15991336 2005
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Cathepsin C (CTSC) gene mutations are etiologic for PLS. 16332247 2005
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Mutations in the cathepsin C gene (CTSC) have been identified as causal for the Papillon-Lefèvre syndrome (PLS), which includes prepubertal periodontitis (PP). 16128836 2005
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 Biomarker disease CTD_human Papillon-Lefèvre syndrome treated with acitretin. 16008657 2005
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE These findings confirm that HMS and PLS are allelic variants of cathepsin C gene mutations and suggest that other factors (environmental or genetic) may be important determinants of the clinical phenotype of HMS and PLS. 15727652 2005
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE This is the first study to demonstrate a CTSC gene mutation in a Thai family with PLS. 15857086 2005
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease UNIPROT The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 14974080 2004
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disease associated with loss-of-function mutations in the DPPI gene locus. 15585850 2004
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 Biomarker disease BEFREE The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 14974080 2004
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.800 GeneticVariation disease BEFREE In the present study we have analyzed the CTSC gene in two unrelated families with PLS. 15108292 2004