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GENE - TERM ANNOTATION REPORT

RGD ID: 1591776
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pex10
Name: peroxisomal biogenesis factor 10
Acc ID: DOID:0080481
Term: peroxisome biogenesis disorder 6A
Definition: A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36. (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)
Pex10 ISOPEX10 (Homo sapiens)7240710OMIM  
Pex10 ISOPEX10 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pex10 ISOPEX10 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger)PMID:10527683 PMID:10862081 PMID:12794690 PMID:15542397 PMID:16199547 PMID:17041890 PMID:17576681 PMID:17702006 PMID:19105186 PMID:19127411 PMID:19142205 PMID:20301621 PMID:20695019 PMID:21031596 PMID:21465523 PMID:24033266 PMID:25179809 PMID:25525159 PMID:25741868 PMID:26319495 PMID:27230853 PMID:28320181 PMID:28492532 PMID:30640048 PMID:7565793 PMID:8982949 PMID:9536098 PMID:9683594 PMID:9700193
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