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 NEFH and vestibular schwannomatosis in Sus scrofa.        

  • 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 NEFH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 24 RGD objects have been annotated to vestibular schwannomatosis  (DOID:0111252)
  • 0 papers in RGD have been used to annotate NEFH
  • Curation Notes: ClinVar Annotator: match by term: Neurofibromatosis, type 2
  • Original References(s): PMID:10220142 PMID:15645494 PMID:16983642 PMID:19968670 PMID:28492532 PMID:9643284 PMID:9817927


  • Go Back to source page   Continue to Ontology report