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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking AGTPBP1 and Childhood-Onset Neurodegeneration with Cerebellar Atrophy in Pan paniscus.        

  • 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 AGTPBP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Childhood-Onset Neurodegeneration with Cerebellar Atrophy  (DOID:9000084)
  • 0 papers in RGD have been used to annotate AGTPBP1


  • An association has been curated linking AGTPBP1 and Childhood-Onset Neurodegeneration with Cerebellar Atrophy 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 AGTPBP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Childhood-Onset Neurodegeneration with Cerebellar Atrophy  (DOID:9000084)
  • 0 papers in RGD have been used to annotate AGTPBP1
  • Curation Notes: ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar atrophy
  • Original References(s): PMID:25741868 PMID:25741916 PMID:30420557 PMID:33624935


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