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GENE - TERM ANNOTATION REPORT

13 Annotations Found.

An association has been curated linking Lrp5 and osteoporosis-pseudoglioma syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Gong Y, etal., Cell. 2001 Nov 16;107(4):513-23.
  • The annotation has been inferred from sequence orthology with LRP5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Gong Y, etal., Cell. 2001 Nov 16;107(4):513-23.
  • 1 RGD objects have been annotated to osteoporosis-pseudoglioma syndrome  (DOID:0060849)
  • 31 papers in RGD have been used to annotate Lrp5
  • Curation Notes: DNA:mutations:cds:


  • An association has been curated linking Lrp5 and osteoporosis-pseudoglioma syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Cheung WM, etal., Bone. 2006 Sep;39(3):470-6. Epub 2006 May 6.
  • The annotation has been inferred from sequence orthology with LRP5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Cheung WM, etal., Bone. 2006 Sep;39(3):470-6. Epub 2006 May 6.
  • 1 RGD objects have been annotated to osteoporosis-pseudoglioma syndrome  (DOID:0060849)
  • 31 papers in RGD have been used to annotate Lrp5
  • Curation Notes: DNA:mutations:cds:p.W478R,p.W504C(human)


  • An association has been curated linking Lrp5 and osteoporosis-pseudoglioma syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LRP5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to osteoporosis-pseudoglioma syndrome  (DOID:0060849)
  • 31 papers in RGD have been used to annotate Lrp5
  • Curation Notes: ClinVar Annotator: match by term: Osteoporosis with pseudoglioma


  • An association has been curated linking Lrp5 and osteoporosis-pseudoglioma syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with LRP5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to osteoporosis-pseudoglioma syndrome  (DOID:0060849)
  • 31 papers in RGD have been used to annotate Lrp5


  • An association has been curated linking Lrp5 and osteoporosis-pseudoglioma syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LRP5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to osteoporosis-pseudoglioma syndrome  (DOID:0060849)
  • 31 papers in RGD have been used to annotate Lrp5
  • Curation Notes: ClinVar Annotator: match by OMIM:259770
  • Original References(s): PMID:20034086


  • An association has been curated linking Lrp5 and osteoporosis-pseudoglioma syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LRP5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to osteoporosis-pseudoglioma syndrome  (DOID:0060849)
  • 31 papers in RGD have been used to annotate Lrp5
  • Curation Notes: ClinVar Annotator: match by OMIM:259770
  • Original References(s): PMID:15981244, PMID:20034086


  • An association has been curated linking Lrp5 and osteoporosis-pseudoglioma syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LRP5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to osteoporosis-pseudoglioma syndrome  (DOID:0060849)
  • 31 papers in RGD have been used to annotate Lrp5
  • Curation Notes: ClinVar Annotator: match by OMIM:259770
  • Original References(s): PMID:11719191, PMID:16252235, PMID:20034086


  • An association has been curated linking Lrp5 and osteoporosis-pseudoglioma syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LRP5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to osteoporosis-pseudoglioma syndrome  (DOID:0060849)
  • 31 papers in RGD have been used to annotate Lrp5
  • Curation Notes: ClinVar Annotator: match by OMIM:259770
  • Original References(s): PMID:11719191


  • An association has been curated linking Lrp5 and osteoporosis-pseudoglioma syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LRP5 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to osteoporosis-pseudoglioma syndrome  (DOID:0060849)
  • 31 papers in RGD have been used to annotate Lrp5
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:18825883


  • An association has been curated linking Lrp5 and osteoporosis-pseudoglioma syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LRP5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to osteoporosis-pseudoglioma syndrome  (DOID:0060849)
  • 31 papers in RGD have been used to annotate Lrp5
  • Curation Notes: ClinVar Annotator: match by term: Osteoporosis with pseudoglioma
  • Original References(s): PMID:25741868


  • An association has been curated linking Lrp5 and osteoporosis-pseudoglioma syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LRP5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to osteoporosis-pseudoglioma syndrome  (DOID:0060849)
  • 31 papers in RGD have been used to annotate Lrp5
  • Curation Notes: ClinVar Annotator: match by term: Osteoporosis with pseudoglioma
  • Original References(s): PMID:11719191, PMID:12579474, PMID:15024691, PMID:15077203, PMID:15201508, PMID:15619672, PMID:15767861, PMID:15777745, PMID:15824851, PMID:15824861, PMID:15850991, PMID:16679074, PMID:17137849, PMID:17202888, PMID:17223614, PMID:17306638, PMID:17307038, PMID:18058054, PMID:18349089, PMID:18588671, PMID:25741868, PMID:26467025


  • An association has been curated linking Lrp5 and osteoporosis-pseudoglioma syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LRP5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to osteoporosis-pseudoglioma syndrome  (DOID:0060849)
  • 31 papers in RGD have been used to annotate Lrp5
  • Curation Notes: ClinVar Annotator: match by term: Osteoporosis with pseudoglioma
  • Original References(s): PMID:11793484, PMID:12579474, PMID:14727154, PMID:15077203, PMID:15201508, PMID:15619672, PMID:15767861, PMID:15777745, PMID:15824851, PMID:17086708, PMID:17137849, PMID:17202888, PMID:17223614, PMID:17241106, PMID:17306638, PMID:17307038, PMID:17505772, PMID:17766366, PMID:18058054, PMID:18349089, PMID:18493104, PMID:18588671, PMID:18932002, PMID:19023643, PMID:25741868, PMID:26467025


  • An association has been curated linking Lrp5 and osteoporosis-pseudoglioma syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LRP5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to osteoporosis-pseudoglioma syndrome  (DOID:0060849)
  • 31 papers in RGD have been used to annotate Lrp5
  • Curation Notes: ClinVar Annotator: match by term: Osteoporosis with pseudoglioma
  • Original References(s): PMID:25741868, PMID:28492532


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.