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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Acbd6 and Combined Pituitary Hormone Deficiency 4 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with ACBD6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Combined Pituitary Hormone Deficiency 4  (DOID:9008403)
  • 3 papers in RGD have been used to annotate Acbd6
  • Curation Notes: ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects | ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
  • Original References(s): PMID: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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