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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Unc80 and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 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 UNC80 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies  (DOID:9006603)
  • 3 papers in RGD have been used to annotate Unc80
  • Curation Notes: ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies
  • Original References(s): PMID:24033266 PMID:25741868 PMID:26545877 PMID:26708751 PMID:26708753 PMID:28492532


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