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GENE - TERM ANNOTATION REPORT

RGD ID: 1565146
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Brat1
Name: BRCA1-associated ATM activator 1
Acc ID: DOID:0090031
Term: D-bifunctional protein deficiency
Definition: A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency "DO" "DO", https://www.omim.org/entry/261515 "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)
Brat1 ISOBRAT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DBP deficiencyPMID:16385454 PMID:22279524 PMID:23035047 PMID:28492532
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