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GENE - TERM ANNOTATION REPORT

RGD ID: 69080
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nfix
Name: nuclear factor I X
Acc ID: DOID:0111254
Term: glutaric acidemia I
Definition: An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16602100 "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)
Nfix ISONFIX (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Glutaric aciduria, type 1PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532
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