Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
CUI: C0080233
Disease: Tooth Loss
Tooth Loss
0.010 GeneticVariation BEFREE Papillon-Lefevre syndrome (PLS; OMlM 245000) is an autosomal recessive disease caused by mutations in cathepsin C (CTSC) gene and is characterized by palmoplantar keratoderma, psoriasiform lesion over the extensor surfaces and gingivitis followed by loss of teeth. 20236208

2010