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GENE - TERM ANNOTATION REPORT

RGD ID: 1350824
Species: Homo sapiens
RGD Object: Gene
Symbol: ERLIN2
Name: ER lipid raft associated 2
Acc ID: DOID:0110771
Term: hereditary spastic paraplegia 18
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21330303 "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)
ERLIN2 IAGP 7240710OMIM  
ERLIN2 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
ERLIN2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegia 18PMID:25741868
ERLIN2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spastic paraplegia 18a, autosomal dominantPMID:28492532 PMID:32094424
ERLIN2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegia 18 
ERLIN2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spastic paraplegia 18a, autosomal dominantPMID:29528531
ERLIN2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegia 18PMID:23109145
ERLIN2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegia 18PMID:21330303
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