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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking Lbr and Pelger-Huet anomaly in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Shultz LD, etal., Hum Mol Genet. 2003 Jan 1;12(1):61-9.
  • 2 additional annotations were made from Shultz LD, etal., Hum Mol Genet. 2003 Jan 1;12(1):61-9.
  • 2 RGD objects have been annotated to Pelger-Huet anomaly  (DOID:9631)
  • 18 papers in RGD have been used to annotate Lbr
  • Curation Notes: DNA:nonsense mutation, frameshift mutations


    • An association has been curated linking Lbr and Pelger-Huet anomaly in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Best S, etal., Br J Haematol. 2003 Nov;123(3):542-4.
  • The annotation has been inferred from sequence orthology with LBR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Best S, etal., Br J Haematol. 2003 Nov;123(3):542-4.
  • 2 RGD objects have been annotated to Pelger-Huet anomaly  (DOID:9631)
  • 18 papers in RGD have been used to annotate Lbr
  • Curation Notes: DNA:missense mutation, splice-site mutation:exon, intron:p.P119L, IVS11-9A>G (human)


    • An association has been curated linking Lbr and Pelger-Huet anomaly in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Hoffmann K, etal., Nat Genet. 2002 Aug;31(4):410-4. Epub 2002 Jul 15.
  • The annotation has been inferred from sequence orthology with LBR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Hoffmann K, etal., Nat Genet. 2002 Aug;31(4):410-4. Epub 2002 Jul 15.
  • 2 RGD objects have been annotated to Pelger-Huet anomaly  (DOID:9631)
  • 18 papers in RGD have been used to annotate Lbr
  • Qualifier: susceptibility
  • Curation Notes: DNA:splice-site mutations, frameshift mutations, nonsense mutations


    • An association has been curated linking Lbr and Pelger-Huet anomaly 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 LBR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Pelger-Huet anomaly  (DOID:9631)
  • 18 papers in RGD have been used to annotate Lbr


    • An association has been curated linking Lbr and Pelger-Huet anomaly in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 2 RGD objects have been annotated to Pelger-Huet anomaly  (DOID:9631)
  • 18 papers in RGD have been used to annotate Lbr
  • Curation Notes: OMIM:169400


    • An association has been curated linking Lbr and Pelger-Huet anomaly in Mus musculus.        

  • 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 LBR (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Pelger-Huet anomaly  (DOID:9631)
  • 18 papers in RGD have been used to annotate Lbr
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Lbr and Pelger-Huet anomaly 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 LBR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Pelger-Huet anomaly  (DOID:9631)
  • 18 papers in RGD have been used to annotate Lbr
  • Curation Notes: ClinVar Annotator: match by term: Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities | ClinVar Annotator: match by term: Pelger-Huet Anomaly | ClinVar Annotator: match by term: Pelger-Huët anomaly
  • Original References(s): PMID:12118250 PMID:14617022 PMID:18382993 PMID:21327084 PMID:23824842 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26938784 PMID:27336722 PMID:27830109 PMID:28492532 PMID:30448303 PMID:32827848 PMID:34567078 PMID:36307859


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