PRG4, proteoglycan 4, 10216

N. diseases: 73; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly
0.030 GeneticVariation disease BEFREE Camptodactyly--arthropathy-coxa vara-pericarditis (CACP) syndrome is an autosomal recessive disorder caused by mutations in the PRG4 (proteoglycan 4) gene. 25297354 2014
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly
0.030 GeneticVariation disease BEFREE Camptodactyly-Arthropathy-Coxa vara-Pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by mutations in PRG4 gene that encodes for proteoglycan 4, a mucin-like glycoprotein that is the major lubricant for joints and tendon surfaces. 23756439 2014
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly
0.030 GeneticVariation disease BEFREE Camptodactyly-arthropathy-coxavara-pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by mutations in the gene proteoglycan 4 (PRG4), affecting lubricin production, which is an essential protein for joint function. 23290693 2013