rs121908668, LRP5

N. diseases: 5
Disease: Osteoporosis with pseudoglioma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteoporosis with pseudoglioma
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
0.010 GeneticVariation BEFREE The Wnt pathway was found to be involved in bone biology in 2001-2002 with the discovery of a (G171V) mutation in the lipoprotein receptor-related protein 5 (LRP5) that resulted in high bone mass and another mutation that completely inactivated Lrp5 function and resulted in osteoporosis pseudoglioma syndrome (OPPG). 28432596 2017