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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking VPS13A and choreaacanthocytosis in Sus scrofa.        

  • 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 VPS13A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to choreaacanthocytosis  (DOID:0050766)
  • 0 papers in RGD have been used to annotate VPS13A


  • An association has been curated linking VPS13A and choreaacanthocytosis in Sus scrofa.        

  • 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 VPS13A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to choreaacanthocytosis  (DOID:0050766)
  • 0 papers in RGD have been used to annotate VPS13A
  • Curation Notes: ClinVar Annotator: match by term: Chorea-acanthocytosis | ClinVar Annotator: match by term: Choreoacanthocytosis | ClinVar Annotator: match by term: VPS13A-related condition
  • Original References(s): PMID:11381253 PMID:11381254 PMID:12404112 PMID:14663054 PMID:15824261 PMID:15918062 PMID:16199547 PMID:17516458 PMID:17576681 PMID:17998451 PMID:21145924 PMID:21598378 PMID:22038564 PMID:22777538 PMID:24033266 PMID:24974674 PMID:25733999 PMID:25741868 PMID:26467025 PMID:26870756 PMID:27400454 PMID:28492532 PMID:31192303 PMID:32131761 PMID:9536098


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