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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Ltbp2 and Weill-Marchesani Syndrome 3 in Mus musculus.        

  • 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 LTBP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Weill-Marchesani Syndrome 3  (DOID:9007248)
  • 25 papers in RGD have been used to annotate Ltbp2


    • An association has been curated linking Ltbp2 and Weill-Marchesani Syndrome 3 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Haji-Seyed-Javadi R, etal., Hum Mutat. 2012 Aug;33(8):1182-7. doi: 10.1002/humu.22105. Epub 2012 May 29.
  • The annotation has been inferred from sequence orthology with LTBP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Haji-Seyed-Javadi R, etal., Hum Mutat. 2012 Aug;33(8):1182-7. doi: 10.1002/humu.22105. Epub 2012 May 29.
  • 1 RGD objects have been annotated to Weill-Marchesani Syndrome 3  (DOID:9007248)
  • 25 papers in RGD have been used to annotate Ltbp2
  • Curation Notes: DNA:missense mutation:CDS:p.V1177M (c.3529G>A) (137854856) (human)


    • An association has been curated linking Ltbp2 and Weill-Marchesani Syndrome 3 in Mus musculus.        

  • 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 LTBP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Weill-Marchesani Syndrome 3  (DOID:9007248)
  • 25 papers in RGD have been used to annotate Ltbp2
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani syndrome 3
  • Original References(s): PMID:22539340 PMID:23401661 PMID:25741868 PMID:28492532


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