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GENE - TERM ANNOTATION REPORT

RGD ID: 14169118
Species: Sus scrofa
RGD Object: Gene
Symbol: CUL9
Name: cullin 9
Acc ID: DOID:905
Term: Zellweger syndrome
Definition: A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Zellweger_Syndrome "DO" "DO", http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm "DO" "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912 "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)
CUL9 ISOCUL9 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrumPMID:19877282 PMID:21031596 PMID:28492532 PMID:8670792
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