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GENE - TERM ANNOTATION REPORT

RGD ID: 62106
Species: Mus musculus
RGD Object: Gene
Symbol: Pex2
Name: peroxisomal biogenesis factor 2
Acc ID: DOID:0080480
Term: peroxisome biogenesis disorder 5A
Definition: A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21. (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)
Pex2 ISOPEX2 (Homo sapiens)7240710OMIM  
Pex2 ISOPEX2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pex2 ISOPEX2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Peroxisome biogenesis disorder 5A (Zellweger)PMID:10528859 PMID:10652207 PMID:14630978 PMID:1546315 PMID:15542397 PMID:17041890 PMID:21031596 PMID:21465523 PMID:23430938 PMID:23590336 PMID:23829372 PMID:25333069 PMID:25741868 PMID:28089346 PMID:28492532 PMID:32860008 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609
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