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GENE - TERM ANNOTATION REPORT

RGD ID: 8815742
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Pex5
Name: peroxisomal biogenesis factor 5
Acc ID: DOID:0080476
Term: peroxisome biogenesis disorder 1A
Definition: A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17055079 "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)
Pex5 ISOPEX5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1aPMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031
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