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GENE - TERM ANNOTATION REPORT

RGD ID: 1594540
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pole
Name: DNA polymerase epsilon, catalytic subunit
Acc ID: DOID:9000282
Term: IMAGEI Syndrome
Definition: null
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)
Pole ISOPOLE (Homo sapiens)7240710OMIM  
Pole ISOPOLE (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiencyPMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 PMID:21129811 PMID:23230001 PMID:23263490 PMID:23447401 PMID:24033266 PMID:25741868 PMID:25948378 PMID:26467025 PMID:27153395 PMID:28492532 PMID:29056344 PMID:29212164 PMID:29754823 PMID:29987844 PMID:30503519 PMID:35599849 PMID:35860951 PMID:9536098
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