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GENE - TERM ANNOTATION REPORT

RGD ID: 18901376
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Pex26
Name: peroxisomal biogenesis factor 26
Acc ID: DOID:0050444
Term: infantile Refsum disease
Definition: A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes. (DO)
Definition Source(s): https://www.ninds.nih.gov/Disorders/All-Disorders/Infantile-Refsum-Disease-Information-Page "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)
Pex26 ISOPEX26 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATALPMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 PMID:16199547 PMID:16257970 PMID:19105186 PMID:19877282 PMID:21031596 PMID:25741868 PMID:26287655 PMID:26627908 PMID:27392320 PMID:28492532 PMID:28944237 PMID:29947050 PMID:30366024 PMID:30446579 PMID:9090381
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