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GENE - TERM ANNOTATION REPORT

RGD ID: 61992
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gch1
Name: GTP cyclohydrolase 1
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)
Gch1 ISOGCH1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuricPMID:15389992 PMID:19491146 PMID:24993959 PMID:25125585 PMID:25398234 PMID:25497597 PMID:25741868 PMID:26230973 PMID:26467025 PMID:27185167 PMID:27217339 PMID:28492532 PMID:30314816
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