Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 GeneticVariation phenotype BEFREE Importantly, alterations in any of those GATA1 regulatory checkpoints have been recognized as an important cause of hematological disorders such as dyserythropoiesis (with or without thrombocytopenia), β-thalassemia, Diamond-Blackfan anemia, myelodysplasia, or leukemia. 31769197 2020
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 GeneticVariation phenotype CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 GeneticVariation phenotype BEFREE The diagnosis of a GATA1 gene mutation may be suspected in cases of male fetuses with intracerebral bleeding, particularly if a history of prior fetal loss(es) and mild maternal thrombocytopenia are also present. 29949202 2018
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 GeneticVariation phenotype BEFREE Mutations in GATA-1 are associated with acute megakaryoblastic leukemia (AMKL), congenital erythroid hypoplasia (Diamond-Blackfan anemia; DBA), and X-linked anemia and/or thrombocytopenia. 28566565 2017
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 Biomarker phenotype GENOMICS_ENGLAND Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. 22706301 2012
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 GeneticVariation phenotype BEFREE A mouse model of human thrombocytopenia has been established using a transgenic complementation rescue approach; GATA1-deficient mice were successfully rescued from embryonic lethality by excess expression of GATA1(V205G), but rescued adult mice suffered from severe thrombocytopenia. 22279059 2012
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 GeneticVariation phenotype BEFREE Inherited thrombocytopenia due to GATA-1 mutations. 22102271 2011
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 Biomarker phenotype BEFREE In conclusion, this study is the first report of an anti-GATA1 autoantibody leading to severe thrombocytopenia and gastrointestinal bleeding from multiple pinpoint hemangiomata. 19924028 2010
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 AlteredExpression phenotype BEFREE In addition to its immunosuppressive activity, HDAC inhibitors block GATA binding protein-1 (GATA-1) gene expression in megakaryocytes and elicit thrombocytopenia. 18239292 2008
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 GeneticVariation phenotype LHGDN Congenital transfusion-dependent anemia and thrombocytopenia with myelodysplasia due to a recurrent GATA1(G208R) germline mutation. 17713552 2008
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 GeneticVariation phenotype LHGDN "Why the disorder induced by GATA1 Arg216Gln mutation should be called ""X-linked thrombocytopenia with thalassemia"" rather than ""X-linked gray platelet syndrome""." 17881640 2007
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 AlteredExpression phenotype BEFREE Our findings may help our understanding of the molecular mechanism of HDAC inhibitor-mediated GATA-1 transcriptional repression and to reduce the risk of HDAC inhibitor-induced thrombocytopenia. 17628529 2007
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 GeneticVariation phenotype BEFREE To date, mutations of GATA-1 gene have been found in inherited anemia and thrombocytopenia, and Down syndrome-related acute leukemia, which exhibits megakaryocytic phenotypes and frequently occurs in patients with Down syndrome. 16960339 2006
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 Biomarker phenotype CTD_human A mutation in the translation initiation codon of Gata-1 disrupts megakaryocyte maturation and causes thrombocytopenia. 16966598 2006
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 Biomarker phenotype BEFREE A mutation in the translation initiation codon of Gata-1 disrupts megakaryocyte maturation and causes thrombocytopenia. 16966598 2006
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 Biomarker phenotype BEFREE Our results are consistent with GATA1 regulating some but not all pathways of platelet activation, leading to an impairment of aggregate formation under flow, which cannot be attributed solely to the thrombocytopenia. 15701726 2005
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 Biomarker phenotype GENOMICS_ENGLAND Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. 11809723 2002
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 GeneticVariation phenotype LHGDN X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. 12200364 2002
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 GeneticVariation phenotype BEFREE Here we describe a family with X-linked dyserythropoietic anaemia and thrombocytopenia due to a substitution of methionine for valine at amino acid 205 of GATA-1. 10700180 2000
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 AlteredExpression phenotype BEFREE ETS 1 and FLI, two proto-oncogenes that appear to be essential with GATA1 for the normal expression of MK-specific genes, map to 11q23-q24 and are, thus, deleted in this thrombocytopenia. 7703487 1995
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 Biomarker phenotype MGD
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.900 Biomarker phenotype HPO
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
0.690 GeneticVariation phenotype BEFREE Regardless of age of presentation and severity of symptoms related to thrombocytopenia and/or platelet dysfunction, a subset of patients with IT are at increased risk of developing myeloid neoplasms during their life time, particularly those with germline autosomal dominant mutations in RUNX1, ANKRD26, and ETV6. 31069978 2019
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
0.690 GeneticVariation phenotype BEFREE Care for individuals with ETV6-related thrombocytopenia and leukemia predisposition includes genetic counseling, treatment or prevention of excessive bleeding and surveillance for the development of hematologic malignancy. 31248877 2019
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
0.690 Biomarker phenotype BEFREE The occurrence of grade 3-4 anemia and thrombocytopenia is higher in the TEL group (52.5% vs. 10.0% and 34.4% vs. 1.7% respectively). 29483583 2018