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GENE - TERM ANNOTATION REPORT

RGD ID: 1318134
Species: Homo sapiens
RGD Object: Gene
Symbol: HIBCH
Name: 3-hydroxyisobutyryl-CoA hydrolase
Acc ID: DOID:9008784
Term: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Definition: An autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia.
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
HIBCH IAGP 7240710OMIM  
HIBCH EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:24299452 PMID:25741868
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:26026795 PMID:28492532
HIBCH IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:26163321
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:25251209 PMID:25741868
HIBCH IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: 3-hydroxyisobutyryl-CoA hydrolase deficiency | ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:25741868 PMID:28492532
HIBCH IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency | ClinVar Annotator: match by term: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiencyPMID:25741868
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:16199547 PMID:17160907 PMID:25741868 PMID:26163321 PMID:28492532 PMID:30111474
HIBCH IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:28492532
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:16199547 PMID:17160907 PMID:24033266 PMID:25741868 PMID:26163321 PMID:28492532
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:25591832 PMID:25741868 PMID:27435318 PMID:28454995
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:28492532 PMID:32022391 PMID:32677093
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:24033266 PMID:32022391
HIBCH IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency 
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: 3-hydroxyisobutyryl-CoA hydrolase deficiencyPMID:17160907 PMID:25741868 PMID:26163321 PMID:28492532
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:25591832 PMID:25741868
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:25741868 PMID:25741914
HIBCH IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:16199547 PMID:17160907 PMID:26163321 PMID:28492532
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:25741868 PMID:28492532 PMID:33762937
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:25251209 PMID:28492532
HIBCH IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:17576681 PMID:28492532 PMID:9536098
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:28492532 PMID:29703962
HIBCH IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:28492532 PMID:33762937
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:17160907 PMID:26163321 PMID:28492532 PMID:33762937
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:25741868 PMID:28492532 PMID:32677093
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:17160907 PMID:7122152
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:17160907 PMID:25741868 PMID:27896122 PMID:28492532 PMID:32677093
HIBCH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiencyPMID:17160907
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