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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Hoxa1 and Athabaskan brainstem dysgenesis 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 HOXA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Athabaskan brainstem dysgenesis syndrome  (DOID:0050682)
  • 14 papers in RGD have been used to annotate Hoxa1


    • An association has been curated linking Hoxa1 and Athabaskan brainstem dysgenesis syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Bosley TM, etal., Am J Med Genet A. 2008 May 15;146A(10):1235-40. doi: 10.1002/ajmg.a.32262.
  • The annotation has been inferred from sequence orthology with HOXA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Bosley TM, etal., Am J Med Genet A. 2008 May 15;146A(10):1235-40. doi: 10.1002/ajmg.a.32262.
  • 2 RGD objects have been annotated to Athabaskan brainstem dysgenesis syndrome  (DOID:0050682)
  • 14 papers in RGD have been used to annotate Hoxa1
  • Curation Notes: DNA:mutations:cds:185delG,175-176insG,76C>T(human)


    • An association has been curated linking Hoxa1 and Athabaskan brainstem dysgenesis 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 HOXA1 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Athabaskan brainstem dysgenesis syndrome  (DOID:0050682)
  • 14 papers in RGD have been used to annotate Hoxa1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:24239177


    • An association has been curated linking Hoxa1 and Athabaskan brainstem dysgenesis 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 HOXA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Athabaskan brainstem dysgenesis syndrome  (DOID:0050682)
  • 14 papers in RGD have been used to annotate Hoxa1
  • Curation Notes: ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome
  • Original References(s): PMID:16155570 PMID:18412118 PMID:25741868 PMID:28492532


    • An association has been curated linking Hoxa1 and Athabaskan brainstem dysgenesis 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 Hoxa1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Athabaskan brainstem dysgenesis syndrome  (DOID:0050682)
  • 14 papers in RGD have been used to annotate Hoxa1
  • Curation Notes: OMIM:601536


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