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GENE - TERM ANNOTATION REPORT

RGD ID: 18927871
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Smim11
Name: small integral membrane protein 11
Acc ID: DOID:0060193
Term: amyotrophic lateral sclerosis type 1
Definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "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)
Smim11 ISOSMIM11 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1PMID:17237124 PMID:23512985 PMID:28492532
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