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GENE - TERM ANNOTATION REPORT

RGD ID: 731384
Species: Homo sapiens
RGD Object: Gene
Symbol: GATA1
Name: GATA binding protein 1
Acc ID: DOID:9003890
Term: X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia
Definition: null
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 IAGP 10450740RGDDNA:missense mutation: :p.M205V, 613G>A (human) 
GATA1 IAGP 10450743RGDDNA:missense mutation: :p.D218G, 653A>G (human) 
GATA1 IAGP 10450749RGDDNA:missense mutation: :p.G208S, [622G>T;623G>C] (human) 
GATA1 IAGP 7240710OMIM  
GATA1 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
GATA1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GATA1-Related X-Linked CytopeniaPMID:25741868 PMID:28492532
GATA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GATA1-Related X-Linked CytopeniaPMID:28492532 PMID:35030251
GATA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemiaPMID:25741868 PMID:31064749
GATA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GATA1-Related X-Linked CytopeniaPMID:28492532 PMID:3164080 PMID:35030251
GATA1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemiaPMID:25741868
GATA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GATA1-Related X-Linked CytopeniaPMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:25741868 PMID:28492532
GATA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemiaPMID:25741868 PMID:36231035
GATA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemiaPMID:10700180 PMID:20301538
GATA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocytopenia, X-linked, without dyserythropoietic anemiaPMID:11418466 PMID:20301538 PMID:25741868 PMID:31064749
GATA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemiaPMID:11809723 PMID:20301538
GATA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GATA1-Related X-Linked CytopeniaPMID:12200364 PMID:14691578 PMID:17209061 PMID:17881640 PMID:19172521 PMID:20301538 PMID:23704091 PMID:25741868 PMID:28492532 PMID:871527
GATA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GATA1-Related X-Linked CytopeniaPMID:16783379 PMID:20301538 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532
GATA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemiaPMID:12200364 PMID:17148589 PMID:20301538 PMID:25741868
GATA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GATA1-Related X-Linked CytopeniaPMID:24728327 PMID:25741868 PMID:28492532
GATA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GATA1-Related X-Linked CytopeniaPMID:20301538 PMID:20729467 PMID:24453067 PMID:24952648 PMID:28492532 PMID:29146883
GATA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GATA1-Related X-Linked CytopeniaPMID:15895080 PMID:16783379 PMID:20301538 PMID:22706301 PMID:24766296 PMID:28492532
GATA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemiaPMID:20301538
GATA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemiaPMID:20301538 PMID:23278136 PMID:25741868 PMID:32581362
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