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GENE - TERM ANNOTATION REPORT

RGD ID: 2663
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gata1
Name: GATA binding protein 1
Acc ID: DOID:0112156
Term: X-linked dyserythropoietic anemia
Definition: An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/16783379/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/22706301/ "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)
Gata1 ISOGATA1 (Homo sapiens)7240710OMIM  
Gata1 ISOGATA1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Gata1 ISOGATA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIESPMID:12200364 PMID:14691578 PMID:15895080 PMID:16783379 PMID:17209061 PMID:17881640 PMID:19172521 PMID:20301538 PMID:20729467 PMID:22706301 PMID:23704091 PMID:24453067 PMID:24766296 PMID:24952648 PMID:25741868 PMID:28492532 PMID:29146883 PMID:871527
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