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GENE - TERM ANNOTATION REPORT

RGD ID: 619915
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Qdpr
Name: quinoid dihydropteridine reductase
Acc ID: DOID:9281
Term: phenylketonuria
Definition: An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Phenylketonuria "DO" "DO", https://www.genome.gov/Genetic-Disorders/Phenylketonuria "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)
Qdpr ISOQDPR (Homo sapiens)1601577RGDquinoid dihydropteridine reductase deficiency; DNA:insertion:exon:c.390insACT 
Qdpr ISOQDPR (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:25526675
Qdpr ISOQDPR (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria type 2PMID:11153907 PMID:16199547 PMID:17188538 PMID:25741868 PMID:27246466 PMID:28492532 PMID:7627180 PMID:8326489 PMID:8518287 PMID:9744478
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