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GENE - TERM ANNOTATION REPORT

RGD ID: 1308483
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pex7
Name: peroxisomal biogenesis factor 7
Acc ID: DOID:10582
Term: Refsum disease
Definition: A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Refsum_disease "DO" "DO", https://medlineplus.gov/genetics/condition/refsum-disease/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/30578512/ "DO" "DO", https://rarediseases.org/rare-diseases/refsum-disease/ "DO" "DO", MESH:D012035
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)
Pex7 ISOPEX7 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:12522768
Pex7 ISOPEX7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Phytanic acid storage diseasePMID:10083738 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12325024 PMID:12522768 PMID:14974078 PMID:16199547 PMID:17576681 PMID:1773541 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:23572185 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26408048 PMID:26467025 PMID:26587300 PMID:28492532 PMID:31964843 PMID:31980526 PMID:32483926 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9536098 PMID:9686382
Pex7 ISOPEX7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Phytanic acid storage diseasePMID:10083738 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12325024 PMID:12522768 PMID:14974078 PMID:1773541 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:23572185 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26467025 PMID:26587300 PMID:28492532 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9686382
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