Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.200 AlteredExpression group BEFREE In 2002, we discovered that mice carrying the hypomorphic Gata1<sup>low</sup> mutation that reduces expression of the transcription factor GATA1 in megakaryocytes (Gata1<sup>low</sup> mice) develop myelofibrosis, a phenotype that recapitulates the features of primary myelofibrosis (PMF), the most severe of the Philadelphia-negative myeloproliferative neoplasms (MPNs). 31749302 2020
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.200 GeneticVariation group BEFREE GATA1 alterations are often found in diseases involving these two lineages, such as congenital erythroid and/or megakaryocyte deficiencies, including Diamond Blackfan Anemia (DBA), and acquired neoplasms, such as acute megakaryocytic leukemia (AMKL) and the myeloproliferative neoplasms (MPNs). 29400094 2018
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.200 Biomarker group BEFREE GATA1 Expression in BCR/ABL1-negative Myeloproliferative Neoplasms. 29611379 2018
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.200 GeneticVariation group BEFREE We report a novel case of a neonate with trisomy 21 with GATA1-mutated congenital myeloproliferative disorder complicated by placental fetal thrombotic vasculopathy featuring chorionic vessel leukemic thrombi, fetal circulation vascular injuries, and large aggregates of avascular villi. 25248574 2014
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.200 GeneticVariation group BEFREE Trisomy 21 alters fetal liver hematopoiesis and, in combination with somatic globin transcription factor 1 (GATA1) mutations, leads to development of transient myeloproliferative disease in newborns. 24746204 2014
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.200 GeneticVariation group BEFREE Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia. 20729467 2010
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.200 GeneticVariation group BEFREE Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation. 15654280 2005
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.200 Biomarker group LHGDN Mutations in GATA1 in both transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndrome. 14636651 2004
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.200 GeneticVariation group LHGDN Natural history of GATA1 mutations in Down syndrome. 14656875 2004
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.200 Biomarker group LHGDN Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis. 12560215 2003
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.200 AlteredExpression group LHGDN Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome. 12816863 2003
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.200 Biomarker group HPO