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
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:7352457240710OMIM  
 ISORGD:7352458554872ClinVarClinVar Annotator: match by OMIM:271980

PMID:14635103
 ISORGD:7352458554872ClinVarClinVar Annotator: match by OMIM:271980

PMID:14635103, PMID:9683595
 ISORGD:7352458554872ClinVarClinVar Annotator: match by OMIM:271980

PMID:16542398
 ISORGD:7352458554872ClinVarClinVar Annotator: match by OMIM:271980

PMID:9683595
 ISORGD:7352458554872ClinVarClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency

 
 ISORGD:7352458554872ClinVarClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency

PMID:10633133, PMID:11978762, PMID:12208142, PMID:12507422, PMID:15304120, PMID:15761120, PMID:16619239, PMID:28492532
 ISORGD:7352458554872ClinVarClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency

PMID:11243727, PMID:14635103, PMID:25741868, PMID:28492532
 ISORGD:7352458554872ClinVarClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency

PMID:12743223, PMID:16298354, PMID:19172412, PMID:25431891, PMID:26268900, PMID:27268762, PMID:7726383
 ISORGD:7352458554872ClinVarClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency

PMID:12743223, PMID:16298354, PMID:19172412, PMID:26268900, PMID:27268762, PMID:28492532, PMID:7726383
 ISORGD:7352458554872ClinVarClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency

PMID:14635103, PMID:25741868
 ISORGD:7352458554872ClinVarClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency

PMID:18505418, PMID:19164088
 ISORGD:7352458554872ClinVarClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency

PMID:23430864, PMID:28492532
 ISORGD:7352458554872ClinVarClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency

PMID:25741868
 ISORGD:7352458554872ClinVarClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency

PMID:25741868, PMID:28492532
 ISORGD:7352458554872ClinVarClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency

PMID:26220405, PMID:28492532
 ISORGD:7352458554872ClinVarClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency

PMID:28492532
 ISORGD:73524511554173CTDCTD Direct Evidence: marker/mechanism

PMID:20018576, PMID:23825041, PMID:25641190, PMID:29031482
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.