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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ap4b1 and hereditary spastic paraplegia 47 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 AP4B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to hereditary spastic paraplegia 47  (DOID:0110799)
  • 6 papers in RGD have been used to annotate Ap4b1


  • An association has been curated linking Ap4b1 and hereditary spastic paraplegia 47 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 AP4B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to hereditary spastic paraplegia 47  (DOID:0110799)
  • 6 papers in RGD have been used to annotate Ap4b1
  • Curation Notes: ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 5 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 | ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive
  • Original References(s): PMID:17576681 PMID:18414213 PMID:21440262 PMID:21620353 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 PMID:25741868 PMID:26544806 PMID:28492532 PMID:29193663 PMID:32964447 PMID:32979048 PMID:9536098


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