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GENE - TERM ANNOTATION REPORT

6 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)
  • 32 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)
  • 32 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 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)
  • 32 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 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)
  • 32 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 or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Lrp5 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to osteoporosis-pseudoglioma syndrome  (DOID:0060849)
  • 32 papers in RGD have been used to annotate Lrp5
  • Curation Notes: OMIM:259770


    • 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)
  • 32 papers in RGD have been used to annotate Lrp5
  • Curation Notes: ClinVar Annotator: match by term: Osteoporosis with pseudoglioma | ClinVar Annotator: match by term: Pseudoglioma with bone fragility
  • Original References(s): PMID:11719191 PMID:11793484 PMID:12579474 PMID:14727154 PMID:15024691 PMID:15077203 PMID:15201508 PMID:15346351 PMID:15619672 PMID:15767861 PMID:15777745 PMID:15824851 PMID:15824861 PMID:15850991 PMID:15981244 PMID:16199547 PMID:16234968 PMID:16252235 PMID:16679074 PMID:17086708 PMID:17137849 PMID:17202888 PMID:17223614 PMID:17241106 PMID:17306638 PMID:17307038 PMID:17505772 PMID:17576681 PMID:17766366 PMID:18058054 PMID:18349089 PMID:18493104 PMID:18588671 PMID:18602879 PMID:18932002 PMID:19023643 PMID:19324841 PMID:20034086 PMID:21407258 PMID:21528003 PMID:22456437 PMID:23441120 PMID:24423337 PMID:24706814 PMID:24715757 PMID:25711638 PMID:25741868 PMID:25920554 PMID:26355662 PMID:26467025 PMID:28192794 PMID:28378289 PMID:28420620 PMID:28492532 PMID:28494495 PMID:29131652 PMID:29168297 PMID:29181528 PMID:30283887 PMID:30452590 PMID:30894705 PMID:31039433 PMID:33118644 PMID:33939331 PMID:34639175 PMID:34860240 PMID:35106624 PMID:35876299 PMID:9536098


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