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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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 APTX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 0 papers in RGD have been used to annotate APTX


  • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with APTX (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 0 papers in RGD have been used to annotate APTX
  • Qualifier: susceptibility
  • Curation Notes: DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
  • Original References(s): PMID:12196655 REF_RGD_ID:1599207


  • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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 APTX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 0 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 PMID:12629250 PMID:14506070 PMID:15164193 PMID:15276230 PMID:15365154 PMID:15596775 PMID:15699391 PMID:15719174 PMID:15790557 PMID:15852392 PMID:15876520 PMID:15996403 PMID:16400613 PMID:16700949 PMID:17242337 PMID:18004640 PMID:18403580 PMID:21228398 PMID:21465257 PMID:21486904 PMID:21984210 PMID:23183622 PMID:23659632 PMID:24033266 PMID:24362567 PMID:25637650 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 PMID:28516743 PMID:28652255 PMID:28881617 PMID:29356829 PMID:29482223 PMID:29934293 PMID:30609409 PMID:31493945 PMID:32214227 PMID:32606550 PMID:32750061 PMID:33624863


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