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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Upb1 and Beta-Ureidopropionase Deficiency in Heterocephalus glaber.        

  • 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 UPB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Beta-Ureidopropionase Deficiency  (DOID:9000223)
  • 0 papers in RGD have been used to annotate Upb1
  • Curation Notes: ClinVar Annotator: match by term: Beta-ureidopropionase deficiency
  • Original References(s): PMID:11783491 PMID:15385443 PMID:16199547 PMID:17065070 PMID:17964839 PMID:22525402 PMID:23238479 PMID:24033266 PMID:24123366 PMID:24526388 PMID:25236466 PMID:25445412 PMID:25638458 PMID:25741868 PMID:27553092 PMID:28492532 PMID:30109123 PMID:30608453 PMID:31180159 PMID:33789662 PMID:35151535 PMID:35926322


    • An association has been curated linking Upb1 and Beta-Ureidopropionase Deficiency in Heterocephalus glaber.        

  • 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 UPB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Beta-Ureidopropionase Deficiency  (DOID:9000223)
  • 0 papers in RGD have been used to annotate Upb1


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