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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ralgapa1 and NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION 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 RALGAPA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION  (DOID:9001503)
  • 7 papers in RGD have been used to annotate Ralgapa1


    • An association has been curated linking Ralgapa1 and NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION 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 RALGAPA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION  (DOID:9001503)
  • 7 papers in RGD have been used to annotate Ralgapa1
  • Curation Notes: ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
  • Original References(s): PMID:25741868 PMID:25741905 PMID:32004447


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