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 Nefl and Charcot-Marie-Tooth disease dominant intermediate G in Ictidomys tridecemlineatus.        

  • 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 NEFL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease dominant intermediate G  (DOID:0080294)
  • 0 papers in RGD have been used to annotate Nefl


  • An association has been curated linking Nefl and Charcot-Marie-Tooth disease dominant intermediate G in Ictidomys tridecemlineatus.        

  • 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 NEFL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease dominant intermediate G  (DOID:0080294)
  • 0 papers in RGD have been used to annotate Nefl
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate G
  • Original References(s): PMID:12477167 PMID:12566280 PMID:14733962 PMID:17052987 PMID:19158810 PMID:20301384 PMID:21493625 PMID:21840889 PMID:22206013 PMID:22288874 PMID:24887401 PMID:25448007 PMID:25552649 PMID:25741868 PMID:25741869 PMID:25877835 PMID:26109717 PMID:26467025 PMID:26645395 PMID:27206872 PMID:27549087 PMID:28492532 PMID:32376792


  • Go Back to source page   Continue to Ontology report