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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking POLE and IMAGEI Syndrome in Canis lupus familiaris.        

  • 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 POLE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to IMAGEI Syndrome  (DOID:9000282)
  • 0 papers in RGD have been used to annotate POLE


    • An association has been curated linking POLE and IMAGEI Syndrome in Canis lupus familiaris.        

  • 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 POLE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to IMAGEI Syndrome  (DOID:9000282)
  • 0 papers in RGD have been used to annotate POLE
  • Curation Notes: ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
  • Original References(s): PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 PMID:21129811 PMID:23230001 PMID:23263490 PMID:23447401 PMID:24033266 PMID:25741868 PMID:25948378 PMID:26467025 PMID:27153395 PMID:28492532 PMID:29056344 PMID:29212164 PMID:29754823 PMID:29987844 PMID:30503519 PMID:35599849 PMID:35860951 PMID:9536098


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