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GENE - TERM ANNOTATION REPORT

RGD ID: 1319820
Species: Homo sapiens
RGD Object: Gene
Symbol: EXO1
Name: exonuclease 1
Acc ID: DOID:0111261
Term: fumarase deficiency
Definition: An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22069215 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8200987 "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)
EXO1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fumarase deficiencyPMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532
EXO1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fumarase deficiencyPMID:28492532
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