rs121908671, LRP5

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Worth disease
CUI: C0432273
Disease: Worth disease
0.800 GeneticVariation UNIPROT Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. 12579474 2003
Worth disease
CUI: C0432273
Disease: Worth disease
0.800 CausalMutation CLINVAR
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
CUI: C1843330
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
0.700 CausalMutation CLINVAR
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.010 GeneticVariation BEFREE A missense mutation 640G-->A (A214T) in the low-density lipoprotein receptor-related protein 5 (LRP5) gene was found in all affected individuals analyzed, including cases in whom craniosynostosis, a mild developmental delay, and/or macrocephaly is observed. 15940380 2005
Macrocephaly
CUI: C0221355
Disease: Macrocephaly
0.010 GeneticVariation BEFREE A missense mutation 640G-->A (A214T) in the low-density lipoprotein receptor-related protein 5 (LRP5) gene was found in all affected individuals analyzed, including cases in whom craniosynostosis, a mild developmental delay, and/or macrocephaly is observed. 15940380 2005