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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ap4s1 and hereditary spastic paraplegia 52 in Rattus norvegicus.        

  • 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 AP4S1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 52  (DOID:0110804)
  • 6 papers in RGD have been used to annotate Ap4s1


  • An association has been curated linking Ap4s1 and hereditary spastic paraplegia 52 in Rattus norvegicus.        

  • 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 AP4S1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 52  (DOID:0110804)
  • 6 papers in RGD have been used to annotate Ap4s1
  • Curation Notes: ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive
  • Original References(s): PMID:17576681 PMID:18414213 PMID:21620353 PMID:23167973 PMID:24700674 PMID:25552650 PMID:25741868 PMID:26297806 PMID:27444738 PMID:28492532 PMID:28708303 PMID:31660686 PMID:32979048 PMID:9536098


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