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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Atad3a and neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency 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 ATAD3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome  (DOID:0081396)
  • 5 papers in RGD have been used to annotate Atad3a
  • Curation Notes: ClinVar Annotator: match by term: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
  • Original References(s): PMID:25741868 PMID:27640307 PMID:29053797 PMID:29053800 PMID:31727539


    • An association has been curated linking Atad3a and neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency 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 ATAD3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome  (DOID:0081396)
  • 5 papers in RGD have been used to annotate Atad3a


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