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GENE - TERM ANNOTATION REPORT

RGD ID: 12306364
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: HAL
Name: histidine ammonia-lyase
Acc ID: DOID:0060168
Term: histidinemia
Definition: A histidine metabolism disease characterized by a deficiency of the enzyme histidase. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Histidinemia "DO" "DO", https://ghr.nlm.nih.gov/condition/histidinemia "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)
HAL ISOHAL (Homo sapiens)7240710OMIM  
HAL ISOHAL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Histidinemia | ClinVar Annotator: match by term: Increased histidinePMID:15173056 PMID:15806399 PMID:23361591 PMID:23806086 PMID:24088041 PMID:24725463 PMID:25575548 PMID:25741868 PMID:27453504 PMID:28492532
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