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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Cep55 and multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly in Chinchilla lanigera.        

  • 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 CEP55 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  (DOID:0080327)
  • 1 papers in RGD have been used to annotate Cep55


    • An association has been curated linking Cep55 and multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly in Chinchilla lanigera.        

  • 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 CEP55 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  (DOID:0080327)
  • 1 papers in RGD have been used to annotate Cep55
  • Curation Notes: ClinVar Annotator: match by term: CEP55-related condition
  • Original References(s): PMID:25741868 PMID:28264986 PMID:28295209 PMID:28492532 PMID:30622327 PMID:32100459


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