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GENE - TERM ANNOTATION REPORT

RGD ID: 1564641
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Heg1
Name: heart development protein with EGF-like domains 1
Acc ID: DOID:9270
Term: alkaptonuria
Definition: An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Alkaptonuria "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)
Heg1 ISOHEG1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: AlkaptonuriaPMID:12501223 PMID:19862842 PMID:28492532
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