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GENE - TERM ANNOTATION REPORT

RGD ID: 14045563
Species: Sus scrofa
RGD Object: Gene
Symbol: SOD1
Name: superoxide dismutase 1
Acc ID: DOID:9000578
Term: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE
Definition: An autosomal recessive neurologic disorder characterized by onset of severe and progressive motor dysfunction in the first year of life. Affected individuals have severe axial hypotonia combined with spastic tetraplegia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement.
Definition Source(s): OMIM:618598
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)
SOD1 ISOSOD1 (Homo sapiens)7240710OMIM  
SOD1 ISOSOD1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spastic tetraplegia and axial hypotonia, progressivePMID:15050437 PMID:15208263 PMID:15258228 PMID:16945901 PMID:20075587 PMID:20472325 PMID:23280792 PMID:25741868 PMID:28492532 PMID:29982983 PMID:31314961 PMID:31332433 PMID:7881433
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