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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking L1cam and cerebellar hypoplasia in Heterocephalus glaber.        

  • 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]
  • 98 RGD objects have been annotated to cerebellar hypoplasia  (DOID:0070338)
  • 0 papers in RGD have been used to annotate L1cam
  • Curation Notes: ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
  • Original References(s): PMID:10797421 PMID:16650080 PMID:25741868 PMID:28492532 PMID:31474318 PMID:7562969 PMID:8929944


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