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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Abcb7 and X-linked sideroblastic anemia with ataxia in Ictidomys tridecemlineatus.        

  • 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 ABCB7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to X-linked sideroblastic anemia with ataxia  (DOID:0050554)
  • 0 papers in RGD have been used to annotate Abcb7


  • An association has been curated linking Abcb7 and X-linked sideroblastic anemia with ataxia in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with ABCB7 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked sideroblastic anemia with ataxia  (DOID:0050554)
  • 0 papers in RGD have been used to annotate Abcb7
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutation: :p.I400M (human)
  • Original References(s): PMID:10196363 REF_RGD_ID:1598600


  • An association has been curated linking Abcb7 and X-linked sideroblastic anemia with ataxia in Ictidomys tridecemlineatus.        

  • 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 ABCB7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to X-linked sideroblastic anemia with ataxia  (DOID:0050554)
  • 0 papers in RGD have been used to annotate Abcb7
  • Curation Notes: ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
  • Original References(s): PMID:10196363 PMID:11050011 PMID:11843825 PMID:17576681 PMID:22398176 PMID:25741868 PMID:28492532 PMID:4045952 PMID:9536098


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