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GENE - TERM ANNOTATION REPORT

RGD ID: 2936
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ivd
Name: isovaleryl-CoA dehydrogenase
Acc ID: DOID:14753
Term: isovaleric acidemia
Definition: An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Isovaleric_acidemia "DO" "DO"
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)
Ivd ISOIVD (Homo sapiens)7240710OMIM  
Ivd ISOIVD (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Ivd ISOIVD (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Isovaleric acidemia, type I | ClinVar Annotator: match by term: Isovaleric acidemia, type II | ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiencyPMID:10677295 PMID:10713113 PMID:110677295 PMID:12767731 PMID:1310317 PMID:15337167 PMID:15486829 PMID:16199547 PMID:16602101 PMID:16825284 PMID:17001642 PMID:17027310 PMID:17576084 PMID:17576681 PMID:19089597 PMID:19099814 PMID:20519759 PMID:2063866 PMID:22004070 PMID:22350545 PMID:22960500 PMID:2318964 PMID:24019846 PMID:24059531 PMID:24516753 PMID:24637313 PMID:25220015 PMID:25741868 PMID:26018748 PMID:26589311 PMID:26937393 PMID:26990548 PMID:27629047 PMID:27904153 PMID:28492532 PMID:28535199 PMID:28631226 PMID:29402417 PMID:30159853 PMID:30838026 PMID:30904546 PMID:31442447 PMID:31589614 PMID:31707166 PMID:32505769 PMID:32778825 PMID:32977617 PMID:33123633 PMID:33496032 PMID:33521113 PMID:33565069 PMID:34394177 PMID:34535384 PMID:35095998 PMID:35782626 PMID:35846131 PMID:9536098 PMID:9665741
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