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GENE - TERM ANNOTATION REPORT

RGD ID: 620306
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hbg1
Name: hemoglobin subunit gamma 1
Acc ID: DOID:0080773
Term: delta beta-thalassemia
Definition: A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. (DO)
Definition Source(s): PMID:30706898 "DO" "DO", PMID:31444804 "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)
Hbg1 ISOHBG1 (Homo sapiens)7240710OMIM  
Hbg1 ISOHBG1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fetal hemoglobin, a-gamma type, reduction in | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Sardinian HPFHPMID:1373683 PMID:1374633 PMID:1379347 PMID:1487421 PMID:1698280 PMID:1704803 PMID:1802881 PMID:1990287 PMID:2224140 PMID:2276623 PMID:24033266 PMID:2412945 PMID:2417646 PMID:2423160 PMID:2430647 PMID:2441598 PMID:2451123 PMID:2452784 PMID:2469505 PMID:25741868 PMID:28669403 PMID:291015 PMID:3033668 PMID:31104519 PMID:3181130 PMID:3377986 PMID:3401591 PMID:6019034 PMID:6160889 PMID:6186637 PMID:808940 PMID:811241 PMID:8718701 PMID:939551 PMID:9703422
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