Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Hax1 and severe congenital neutropenia 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 HAX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 296 RGD objects have been annotated to severe congenital neutropenia  (DOID:0050590)
  • 8 papers in RGD have been used to annotate Hax1
  • Curation Notes: ClinVar Annotator: match by term: Severe congenital neutropenia
  • Original References(s): PMID:16199547 PMID:17187068 PMID:19036076 PMID:19499579 PMID:22624626 PMID:25741868 PMID:28492532 PMID:31589614 PMID:32054657 PMID:34426522


  • Go Back to source page   Continue to Ontology report