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GENE - TERM ANNOTATION REPORT

RGD ID: 2752
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gss
Name: glutathione synthetase
Acc ID: DOID:0112252
Term: glutathione synthetase deficiency of erythrocytes
Definition: A glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/5476481/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/659603/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/8896573/ "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)
Gss ISOGSS (Homo sapiens)7240710OMIM  
Gss ISOGSS (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Gss ISOGSS (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due toPMID:11167850 PMID:15056072 PMID:15717202 PMID:25741868 PMID:28492532 PMID:5476481 PMID:8896573 PMID:9215686
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