Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Hibch and Beta-Hydroxyisobutyryl CoA Deacylase 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 HIBCH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  (DOID:9008784)
  • 9 papers in RGD have been used to annotate Hibch


  • An association has been curated linking Hibch and Beta-Hydroxyisobutyryl CoA Deacylase 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 HIBCH (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  (DOID:9008784)
  • 9 papers in RGD have been used to annotate Hibch
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking Hibch and Beta-Hydroxyisobutyryl CoA Deacylase 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 HIBCH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  (DOID:9008784)
  • 9 papers in RGD have been used to annotate Hibch
  • Curation Notes: ClinVar Annotator: match by term: 3-hydroxyisobutyryl-CoA hydrolase deficiency | ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency | ClinVar Annotator: match by term: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
  • Original References(s): PMID:16199547 PMID:17160907 PMID:17576681 PMID:24033266 PMID:24299452 PMID:25251209 PMID:25591832 PMID:25741868 PMID:26026795 PMID:26163321 PMID:27435318 PMID:27896122 PMID:28454995 PMID:28492532 PMID:29703962 PMID:30111474 PMID:32022391 PMID:32677093 PMID:33762937 PMID:7122152 PMID:9536098


  • Go Back to source page   Continue to Ontology report