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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:0061017
Term: combined pituitary hormone deficiency 4
Definition: A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the LHX4 gene on chromosome 1q25. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/17527005/ "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: LHX4-related condition | ClinVar Annotator: match by term: Short stature-pituitary and cerebellar defects-small sella turcica syndromePMID:11567216 PMID:17201807 PMID:17527005 PMID:18073311 PMID:18445675 PMID:20534763 PMID:23990694 PMID:24033266 PMID:25741868 PMID:25910213 PMID:27820671 PMID:28492532
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