rs121908668, LRP5

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
CUI: C1866079
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
0.700 GeneticVariation UNIPROT Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling. 17295608 2007
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
CUI: C1866079
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
0.700 GeneticVariation UNIPROT Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation. 15824861 2005
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
CUI: C1866079
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
0.700 GeneticVariation UNIPROT The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with Mesd. 15143163 2004
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
CUI: C1866079
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
0.700 GeneticVariation UNIPROT A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. 11741193 2002
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
CUI: C1866079
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
0.700 GeneticVariation UNIPROT High bone density due to a mutation in LDL-receptor-related protein 5. 12015390 2002
HIGH BONE MASS
CUI: C1866080
Disease: HIGH BONE MASS
0.700 CausalMutation CLINVAR
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
Osteopenia
CUI: C0029453
Disease: Osteopenia
0.010 GeneticVariation BEFREE Both disuse stimuli induced significant bone loss in WT mice, but Lrp5 A214V and G171V were partially or fully protected from the bone loss that normally results from disuse. 26554834 2015
OVERLAP CONNECTIVE TISSUE DISEASE
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
0.010 GeneticVariation BEFREE Like the previously reported mutation (G171V) that causes the high-bone-mass phenotype, all mutations are located in the aminoterminal part of the gene, before the first epidermal growth factor-like domain. 12579474 2003