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GENE - TERM ANNOTATION REPORT

RGD ID: 1587151
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Elovl1
Name: ELOVL fatty acid elongase 1
Acc ID: DOID:9006712
Term: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
Definition: A disease characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity.
Definition Source(s): MIM:618527
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)
Elovl1 ISOELOVL1 (Homo sapiens)7240710OMIM  
Elovl1 ISOELOVL1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ELOVL1-related condition | ClinVar Annotator: match by term: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial featuresPMID:25741868 PMID:28492532 PMID:29496980 PMID:30487246 PMID:35379526
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