Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE GATA1 and cooperating mutations in myeloid leukaemia of Down syndrome. 31769932 2020
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE TAM requires trisomy 21 and truncating mutations in GATA1; additional TAM variants are usually not pathogenic. 31303423 2019
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 Biomarker disease BEFREE Loss of Full-Length GATA1 Expression in Megakaryocytes Is a Sensitive and Specific Immunohistochemical Marker for the Diagnosis of Myeloid Proliferative Disorder Related to Down Syndrome. 29481579 2018
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE Individuals with Down syndrome (DS) frequently have hematopoietic abnormalities, including transient myeloproliferative disorder and acute megakaryoblastic leukemia which are often accompanied by acquired GATA1 mutations that produce a truncated protein, GATA1s. 29435140 2018
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE We describe here a TMD patient without trisomy 21 or GATA1 mutation in whom single-nucleotide polymorphism analysis of leukemic blasts revealed a novel combined submicroscopic deletion (5q31.1-5q31.3 and 8q23.2q24). 27667142 2017
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE CRISPR/Cas9-Directed Reassignment of the GATA1 Initiation Codon in K562 Cells to Recapitulate AML in Down Syndrome. 28624204 2017
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 AlteredExpression disease BEFREE Comparative analysis of these engineered iPSCs demonstrated that trisomy 21 perturbed hematopoietic development through the enhanced production of early hematopoietic progenitors and the upregulation of mutated GATA1, resulting in the accelerated production of aberrantly differentiated cells. 27134169 2016
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE Of the 29 patients who underwent GATA1 analysis, GATA1 mutations were observed in 15 (51.7%) patients, including 6 (75.0%) out of 8 patients with TAM, and 9 (42.9%) of 21 patients with ML-DS. 27353457 2016
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE Interaction of trisomy 21 and GATA1 mutation produces TAM, but additional gene mutations are required for TAM to transform into DS-AMKL. 28028114 2016
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE The present review focuses on the evolutionary process of TAM to ML-DS, and advances in the understanding of perturbed hematopoiesis in DS with respect to GATA1 mutation and recent findings, including cooperating genetic events, are discussed. 26910243 2016
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 Biomarker disease BEFREE iPSCs Offer a New Look at GATA1-Trisomy 21 Cooperation. 27152438 2016
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE One is a structural mutation in the GATA1 gene, resulting in the production of a short form of GATA1 that lacks the N-terminal transactivation domain and is found in Down syndrome-related acute megakaryocytic leukemia. 28119852 2016
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE Pre-leukemic myeloproliferative changes in DS foetal livers precede the acquisition of GATA1 mutations, transient myeloproliferative disorder (DS-TMD) and acute megakaryocytic leukemia (DS-AMKL). 25973911 2015
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE Based on a literature review, we identified reports describing 14 non-DS AMKL with GATA1 mutation and acquired trisomy 21. 25266042 2015
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE AMKL in children with Down syndrome (DS) is characterized by a founding GATA1 mutation that cooperates with trisomy 21, followed by the acquisition of additional somatic mutations. 26186939 2015
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE It is believed that TMD occurs in the presence of GATA1 mutation together with trisomy 21. 24853125 2015
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE A mutation in GATA1, common in AML of Down syndrome (ML-DS), renders cells more susceptible to cytarabine and anthracyclines, thus permitting targeted dose reductions to preserve high survival rates while reducing toxicity. 26637766 2015
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 Biomarker disease BEFREE Thus, miR-486-5p cooperates with GATA1s in supporting the growth and survival, and the aberrant erythroid phenotype of the megakaryocytic leukemias of DS. 25533034 2015
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE These findings suggest there are other genetic abnormalities that can lead to TAM besides GATA1 mutation in the setting of trisomy 21.Pediatr Blood Cancer 2015;62:353-355. 25175265 2015
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE Are GATA1 mutations occurring at random in Down syndrome transient leukemia? 24880866 2014
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 Biomarker disease BEFREE Thus, the DS model cells generated by these two technologies are useful in assessing how GATA1s mutation is involved in the onset of TAM in patients with DS. 25159877 2014
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE Our case of transient leukemia without Down syndrome and the literature review highlight the important role of trisomy 21 and GATA1 mutation in the development of transient neonatal leukemia. 24253371 2014
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE Our results suggest that GATA1 exon 2 mutations occur late in trisomy 21 fetal hematopoiesis. 24746204 2014
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE These data suggest a direct relationship between the N-terminal truncating mutations of GATA1 and clonal eosinophilia in DS patients. 24336126 2014
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 GeneticVariation disease BEFREE Further analysis identified a mutation in GATA1 along with the unique finding of two different trisomic cell lines, detected upon karyotyping; one with trisomy 21 only, and one with trisomies 21 and 22, which was present in a subpopulation of peripheral blood cells. 24771229 2014