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- NCIT_C95411 IAO_0000115 "Human LRP5 wild-type allele is located in the vicinity of 11q13.4 and is approximately 137 kb in length. This allele, which encodes low-density lipoprotein receptor-related protein 5, plays a role in the modulation of both receptor mediated endocytosis and Wnt signaling pathways. Mutation of the gene is associated with vitreoretinopathy exudative type 4 and several bone disorders." @default.
- NCIT_C95411 NCIT_NHC0 "C95411" @default.
- NCIT_C95411 NCIT_P100 "603506" @default.
- NCIT_C95411 NCIT_P102 "AF064548" @default.
- NCIT_C95411 NCIT_P106 "Gene or Genome" @default.
- NCIT_C95411 NCIT_P107 "LRP5 wt Allele" @default.
- NCIT_C95411 NCIT_P108 "LRP5 wt Allele" @default.
- NCIT_C95411 NCIT_P207 "C2987131" @default.
- NCIT_C95411 NCIT_P321 "4041" @default.
- NCIT_C95411 NCIT_P322 "CTRP" @default.
- NCIT_C95411 NCIT_P98 "The LRP5 gene is associated with skeletal disorders including van Buchem disease type 2, osteopetrosis autosomal dominant type 1, endosteal hyperostosis Worth type, high bone mass, osteoporosis-pseudoglioma syndrome and increased susceptibility to osteoporosis." @default.
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- NCIT_C95411 NCIT_R37 NCIT_C25989 @default.
- NCIT_C95411 NCIT_R37 NCIT_C28498 @default.
- NCIT_C95411 NCIT_R37 NCIT_C29885 @default.
- NCIT_C95411 NCIT_R37 NCIT_C40792 @default.
- NCIT_C95411 NCIT_R41 NCIT_C14182 @default.
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- NCIT_C95411 NCIT_R41 NCIT_C14234 @default.
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- NCIT_C95411 normalizedInformationContent "100" @default.
- NCIT_C95411 referenceCount "1" @default.
- NCIT_C95411 hasExactSynonym "BMND1" @default.
- NCIT_C95411 hasExactSynonym "EVR1" @default.
- NCIT_C95411 hasExactSynonym "EVR4" @default.
- NCIT_C95411 hasExactSynonym "Exudative Vitreoretinopathy 1 Gene" @default.
- NCIT_C95411 hasExactSynonym "Exudative Vitreoretinopathy 4 Gene" @default.
- NCIT_C95411 hasExactSynonym "HBM" @default.
- NCIT_C95411 hasExactSynonym "LR3" @default.
- NCIT_C95411 hasExactSynonym "LRP5 wt Allele" @default.
- NCIT_C95411 hasExactSynonym "LRP7" @default.
- NCIT_C95411 hasExactSynonym "Low Density Lipoprotein Receptor-Related Protein 5 wt Allele" @default.
- NCIT_C95411 hasExactSynonym "Low Density Lipoprotein Receptor-Related Protein 7 Gene" @default.
- NCIT_C95411 hasExactSynonym "OPPG" @default.
- NCIT_C95411 hasExactSynonym "OPS" @default.
- NCIT_C95411 hasExactSynonym "OPTA1" @default.
- NCIT_C95411 hasExactSynonym "Osteoporosis Pseudoglioma Syndrome Gene" @default.
- NCIT_C95411 hasExactSynonym "VBCH2" @default.
- NCIT_C95411 inSubset NCIT_C116977 @default.
- NCIT_C95411 inSubset NCIT_C142799 @default.
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- NCIT_C95411 type Class @default.
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- NCIT_C95411 label "LRP5 wt Allele" @default.
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