CTSC, cathepsin C, 1075

N. diseases: 139; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894207
rs104894207
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC. 25799584 2015
dbSNP: rs104894211
rs104894211
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC. 25799584 2015
dbSNP: rs587777534
rs587777534
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC. 25799584 2015
dbSNP: rs587777534
rs587777534
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		T 0.800 GeneticVariation CLINVAR CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update. 24936511 2014
dbSNP: rs104894207
rs104894207
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome. 15991336 2005
dbSNP: rs104894211
rs104894211
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome. 15991336 2005
dbSNP: rs587777534
rs587777534
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome. 15991336 2005
dbSNP: rs104894207
rs104894207
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs. 15108292 2004
dbSNP: rs104894207
rs104894207
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 14974080 2004
dbSNP: rs104894211
rs104894211
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs. 15108292 2004
dbSNP: rs104894211
rs104894211
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C4551681
Disease:
Periodontitis, Aggressive, 1 		0.800 GeneticVariation UNIPROT The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 14974080 2004
dbSNP: rs104894211
rs104894211
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 14974080 2004
dbSNP: rs28937571
rs28937571
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C4551681
Disease:
Periodontitis, Aggressive, 1 		0.800 GeneticVariation UNIPROT The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 14974080 2004
dbSNP: rs587777534
rs587777534
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 14974080 2004
dbSNP: rs587777534
rs587777534
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		T 0.800 GeneticVariation CLINVAR The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 14974080 2004
dbSNP: rs587777534
rs587777534
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs. 15108292 2004
dbSNP: rs104894207
rs104894207
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT A genetic study of cathepsin C gene in two families with Papillon-Lefèvre syndrome. 12809647 2003
dbSNP: rs104894211
rs104894211
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT A genetic study of cathepsin C gene in two families with Papillon-Lefèvre syndrome. 12809647 2003
dbSNP: rs587777534
rs587777534
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT A genetic study of cathepsin C gene in two families with Papillon-Lefèvre syndrome. 12809647 2003
dbSNP: rs104894207
rs104894207
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome. 12112662 2002
dbSNP: rs104894211
rs104894211
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome. 12112662 2002
dbSNP: rs587777534
rs587777534
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome. 12112662 2002
dbSNP: rs104894207
rs104894207
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene. 11180012 2001
dbSNP: rs104894207
rs104894207
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome. 11886537 2001
dbSNP: rs104894207
rs104894207
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0030360
Disease:
Papillon-Lefevre Disease 		0.800 GeneticVariation UNIPROT Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation. 11180601 2001