GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
0.470 GeneticVariation disease BEFREE We describe the case of a 17-year-old male presenting with features of nontuberculous mycobacterial infection, pulmonary fibrinoid granulomatous vasculitis, and myelodysplasia in the setting of a pathogenic GATA2 frameshift mutation confirmed by next-generation sequencing. 31033783 2019
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
0.470 GeneticVariation disease BEFREE Genetic predispositions to myeloid malignancies can be classified into three categories: familial cancer syndromes associated with increased risk of various malignancies including myelodysplasia and acute myeloid leukemia such as Li-Fraumeni syndrome and constitutional mismatch repair deficiency (CMMRD); germline mutations conferring a specific increased risk of myelodysplastic syndrome and acute myeloid leukemia such as mutations in ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, SRP72 genes; and finally primarily pediatric inherited bone marrow failure syndromes such as Fanconi anemia, dyskeratosis congenita, severe congenital neutropenia, Shwachman-Diamond syndrome and Diamond Blackfan anemia. 31203998 2019
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
0.470 GeneticVariation disease BEFREE GATA2 mutations are associated with several conditions, including Emberger syndrome which is the association of primary lymphedema with hematological anomalies and an increased risk for myelodysplasia and leukemia. 28271814 2017
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
0.470 GeneticVariation disease BEFREE Those with GATA2 mutations are at high risk for myelodysplasia, cytogenetic abnormalities, acute myeloid leukemia or chronic myelomonocytic leukemia. 25397911 2015
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
0.470 GeneticVariation disease BEFREE To identify acquired somatic mutations associated with myeloid transformation in patients with GATA2 mutations, we sequenced the region of the ASXL1 gene previously associated with transformation from myelodysplasia to myeloid leukemia. 24077845 2014
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
0.470 GeneticVariation disease BEFREE Though the disease-causing mutations commonly occur in the GATA-2 DNA binding domain, we identified a patient with mycobacterial infection and myelodysplasia who had an uncharacterized heterozygous deletion in a GATA2 cis-element consisting of an E-box and a GATA motif. 22996659 2012
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
0.470 Biomarker disease BEFREE GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia. 22430350 2012
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
0.470 SusceptibilityMutation disease ORPHANET Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 21892162 2011
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
0.470 Biomarker disease HPO