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GENE - TERM ANNOTATION REPORT

RGD ID: 18928295
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Glrx5
Name: glutaredoxin 5
Acc ID: DOID:9001337
Term: Childhood-Onset Spasticity with Hyperglycinemia
Definition: An autosomal recessive disorder characterized by 'variant' nonketotic hyperglycinemia and onset of slowly progressive spasticity that results in impaired gait in the first decade of life. (OMIM)
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)
Glrx5 ISOGLRX5 (Homo sapiens)7240710OMIM  
Glrx5 ISOGLRX5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GLRX5-related condition | ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemiaPMID:24334290 PMID:25741868 PMID:28492532
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