Send us a Message



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

GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Nrxn1 and Pitt-Hopkins syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with NRXN1 (Homo sapiens) [(EXP) inferred from experiment]
  • 16 RGD objects have been annotated to Pitt-Hopkins syndrome  (DOID:0060488)
  • 31 papers in RGD have been used to annotate Nrxn1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:19896112


  • An association has been curated linking Nrxn1 and Pitt-Hopkins 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 NRXN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 16 RGD objects have been annotated to Pitt-Hopkins syndrome  (DOID:0060488)
  • 31 papers in RGD have been used to annotate Nrxn1
  • Curation Notes: ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome
  • Original References(s): PMID:28492532 PMID:29924869


  • Go Back to source page   Continue to Ontology report