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GENE - TERM ANNOTATION REPORT

RGD ID: 1344852
Species: Homo sapiens
RGD Object: Gene
Symbol: GPI
Name: glucose-6-phosphate isomerase
Acc ID: DOID:2861
Term: congenital nonspherocytic hemolytic anemia
Definition: Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE.
Definition Source(s): MESH:D000746
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)
GPI IAGP 1600633RGDDNA:point_mutation:CDS:1648A>G amino acid K550E 
GPI IAGP 11051849RGDDNA:mutations:cds: 
GPI ISOGpi1 (Mus musculus)11051955RGD  
GPI ISSGpi1 (Mus musculus)13592920MouseDOOMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470 
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