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GENE - TERM ANNOTATION REPORT

RGD ID: 621422
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Aldh5a1
Name: aldehyde dehydrogenase 5 family, member A1
Acc ID: DOID:0060175
Term: succinic semialdehyde dehydrogenase deficiency
Definition: A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism "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)
Aldh5a1 ISOALDH5A1 (Homo sapiens)7240710OMIM  
Aldh5a1 ISOALDH5A1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:20018576 PMID:23825041 PMID:25641190 PMID:29031482
Aldh5a1 ISOALDH5A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiencyPMID:10633133 PMID:11243727 PMID:11544478 PMID:11901270 PMID:12208142 PMID:12507422 PMID:1301198 PMID:14523039 PMID:14635103 PMID:16115930 PMID:16199547 PMID:16442322 PMID:16542398 PMID:16545979 PMID:17438226 PMID:17576681 PMID:19300440 PMID:19484191 PMID:20304328 PMID:21612881 PMID:22437753 PMID:23430864 PMID:23825041 PMID:23926001 PMID:24033266 PMID:25122112 PMID:25246302 PMID:25363768 PMID:25431891 PMID:25558043 PMID:25741868 PMID:26220405 PMID:26268900 PMID:26964512 PMID:27056292 PMID:27104484 PMID:27117035 PMID:27815844 PMID:27824329 PMID:27896081 PMID:28186584 PMID:28191889 PMID:28407358 PMID:28468868 PMID:28492532 PMID:28664505 PMID:29895405 PMID:30091983 PMID:30829465 PMID:31117962 PMID:31267348 PMID:32005694 PMID:32093054 PMID:32223457 PMID:32238909 PMID:32348839 PMID:32395407 PMID:32402538 PMID:32887777 PMID:32907636 PMID:33203024 PMID:34882073 PMID:9536098 PMID:9683595
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