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GENE - TERM ANNOTATION REPORT

RGD ID: 735018
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Bpgm
Name: bisphosphoglycerate mutase
Acc ID: DOID:0111630
Term: familial erythrocytosis 8
Definition: A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/2542247 "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)
Bpgm ISOBPGM (Homo sapiens)1600522RGDDNA:point mutation, deletion: :p.R89C (human) 
Bpgm ISOBPGM (Homo sapiens)7240710OMIM  
Bpgm ISOBPGM (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Bpgm ISOBPGM (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Diphosphoglycerate mutase deficiency of erythrocyte | ClinVar Annotator: match by term: Hemolytic anemia due to diphosphoglycerate mutase deficiencyPMID:1421379 PMID:15054810 PMID:152321 PMID:25015942 PMID:2542247 PMID:25741868 PMID:28492532
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