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GENE - TERM ANNOTATION REPORT

RGD ID: 68520
Species: Mus musculus
RGD Object: Gene
Symbol: Sigmar1
Name: sigma non-opioid intracellular receptor 1
Acc ID: DOID:0060207
Term: amyotrophic lateral sclerosis type 16
Definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO" "DO", http://omim.org/entry/614373 "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)
Sigmar1 ISOSIGMAR1 (Homo sapiens)7240710OMIM  
Sigmar1 ISOSIGMAR1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Sigmar1 ISOSIGMAR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16PMID:21842496 PMID:24088041 PMID:25175561 PMID:25704016 PMID:25741868 PMID:26078401 PMID:26205306 PMID:26633545 PMID:27042935 PMID:27402882 PMID:27629094 PMID:27821430 PMID:28492532 PMID:28622300 PMID:28708278 PMID:29115704 PMID:30079398 PMID:31511340 PMID:31696229 PMID:32055286 PMID:32579787 PMID:33020464 PMID:33618928
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