Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis
0.140 GeneticVariation disease BEFREE A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee. 30151622 2019
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis
0.140 GeneticVariation disease BEFREE Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. 25928877 2015
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis
0.140 GeneticVariation disease BEFREE Our results demonstrate that mutations in FAM20C provide a putative new mechanism in human subjects leading to dysregulated FGF23 levels, hypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis of the long bones in the absence of rickets. 23325605 2013
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis
0.140 GeneticVariation disease BEFREE Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene that is characterized by generalized osteosclerosis with periosteal new bone formation and distinctive craniofacial dysmorphism. 24039075 2013
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis
0.140 Biomarker disease HPO