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GENE - TERM ANNOTATION REPORT

RGD ID: 1305030
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Acbd6
Name: acyl-CoA binding domain containing 6
Acc ID: DOID:0061019
Term: combined or isolated pituitary hormone deficiency 1
Definition: A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/34270938/ "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)
Acbd6 ISOACBD6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1PMID:25741868
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