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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Acadsb and 2-Methylbutyryl-CoA Dehydrogenase Deficiency 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 ACADSB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 16 RGD objects have been annotated to 2-Methylbutyryl-CoA Dehydrogenase Deficiency  (DOID:9003149)
  • 16 papers in RGD have been used to annotate Acadsb


    • An association has been curated linking Acadsb and 2-Methylbutyryl-CoA Dehydrogenase Deficiency 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 ACADSB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 16 RGD objects have been annotated to 2-Methylbutyryl-CoA Dehydrogenase Deficiency  (DOID:9003149)
  • 16 papers in RGD have been used to annotate Acadsb
  • Curation Notes: ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase
  • Original References(s): PMID:10832746 PMID:11013134 PMID:12837870 PMID:15615815 PMID:16199547 PMID:16317551 PMID:17576681 PMID:17883863 PMID:17945527 PMID:20547083 PMID:23712021 PMID:25741868 PMID:26284228 PMID:28492532 PMID:30626930 PMID:30730842 PMID:31555323 PMID:31785789 PMID:32778825 PMID:33727708 PMID:34297361 PMID:36147814 PMID:9536098


    • An association has been curated linking Acadsb and 2-Methylbutyryl-CoA Dehydrogenase Deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with ACADSB (Homo sapiens) [(EXP) inferred from experiment]
  • 16 RGD objects have been annotated to 2-Methylbutyryl-CoA Dehydrogenase Deficiency  (DOID:9003149)
  • 16 papers in RGD have been used to annotate Acadsb
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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