rs1377083279, FAM20C

N. diseases: 2
Disease: Hypophosphataemic osteomalacia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypophosphataemic osteomalacia
CUI: C4727947
Disease: Hypophosphataemic osteomalacia
0.010 GeneticVariation BEFREE We report an adult case of Raine syndrome accompanying hypophosphatemic osteomalacia with a homozygous FAM20C mutation (R408W) associated with increased periosteal bone formation in the long bones and an increase in bone mineral density in the femoral neck. 24982027 2014