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GENE - TERM ANNOTATION REPORT

RGD ID: 1310078
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sarm1
Name: sterile alpha and TIR motif containing 1
Acc ID: DOID:0111678
Term: hereditary folate malabsorption
Definition: A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17129779 "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)
Sarm1 ISOSARM1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital defect of folate absorptionPMID:11807405 PMID:17129779 PMID:17446347 PMID:19740703 PMID:20301716 PMID:20686069 PMID:21489556 PMID:22345511 PMID:25741868 PMID:27664775 PMID:28492532
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