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 L1CAM and hereditary spastic paraplegia in Pan paniscus.        

  • 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 L1CAM (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 451 RGD objects have been annotated to hereditary spastic paraplegia  (DOID:2476)
  • 0 papers in RGD have been used to annotate L1CAM
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia
  • Original References(s): PMID:10797421 PMID:11438988 PMID:11772994 PMID:16760466 PMID:18414213 PMID:19846429 PMID:22222883 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30487145 PMID:9195224 PMID:9268105


  • Go Back to source page   Continue to Ontology report