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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Mapre1 and immunodeficiency-centromeric instability-facial anomalies syndrome 1 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 MAPRE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to immunodeficiency-centromeric instability-facial anomalies syndrome 1  (DOID:0090008)
  • 0 papers in RGD have been used to annotate Mapre1
  • Curation Notes: ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
  • Original References(s): PMID:11102980 PMID:28492532


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