rs80358313, LRP5

N. diseases: 3
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
0.700 GeneticVariation UNIPROT Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates. 18602879 2008
Osteoporosis with pseudoglioma
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
0.700 GeneticVariation UNIPROT A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome. 17437160 2007
Osteoporosis with pseudoglioma
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
0.700 GeneticVariation UNIPROT A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene. 16679074 2006
Osteoporosis with pseudoglioma
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
0.700 GeneticVariation UNIPROT Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. 16252235 2005
Osteoporosis with pseudoglioma
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
0.700 GeneticVariation UNIPROT LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. 11719191 2001