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 Kif5c and autosomal dominant intellectual developmental disorder 1 in Mus musculus.        

  • 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 KIF5C (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 13 RGD objects have been annotated to autosomal dominant intellectual developmental disorder 1  (DOID:0070031)
  • 11 papers in RGD have been used to annotate Kif5c
  • Curation Notes: ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder
  • Original References(s): PMID:19904302 PMID:21981781 PMID:23632792


  • Go Back to source page   Continue to Ontology report