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GENE - TERM ANNOTATION REPORT

RGD ID: 12246481
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: SOD1
Name: superoxide dismutase 1
Acc ID: DOID:332
Term: amyotrophic lateral sclerosis
Definition: A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO" "DO", http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm "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)
SOD1treatmentISOSOD1 (Homo sapiens)9068941RGD PMID:26826269 REF_RGD_ID:13524551
SOD1 ISOSOD1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot diseasePMID:10439968 PMID:10809943 PMID:10889018 PMID:11220750 PMID:11284995 PMID:11369193 PMID:11408340 PMID:11467054 PMID:11997070 PMID:12442272 PMID:12482932 PMID:14506936 PMID:14517684 PMID:14623191 PMID:15069187 PMID:15258228 PMID:15465081 PMID:15952898 PMID:16020530 PMID:16319027 PMID:16945901 PMID:17146286 PMID:17255946 PMID:17420412 PMID:17483589 PMID:18319614 PMID:18428003 PMID:18608106 PMID:18951903 PMID:19344917 PMID:19483195 PMID:19635794 PMID:19703565 PMID:19922148 PMID:19965850 PMID:20189984 PMID:20309572 PMID:20399791 PMID:20460594 PMID:20540686 PMID:22264771 PMID:22292843 PMID:22475618 PMID:22632444 PMID:23062701 PMID:23280792 PMID:25025039 PMID:25052939 PMID:25299611 PMID:25509359 PMID:25600987 PMID:25741868 PMID:25792239 PMID:25806427 PMID:26362407 PMID:26467025 PMID:26742954 PMID:27348463 PMID:28105640 PMID:28430856 PMID:28492532 PMID:29411640 PMID:29861044 PMID:30637102 PMID:31788332 PMID:7647793 PMID:7655469 PMID:7836951 PMID:8298637 PMID:8813280 PMID:8875253 PMID:8909456 PMID:9365366 PMID:9817920
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