GATA1, GATA binding protein 1, 2623

N. diseases: 264; N. variants: 19
Disease: Myeloid leukemia associated with Down Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2825149
Disease: Myeloid leukemia associated with Down Syndrome
Myeloid leukemia associated with Down Syndrome 		0.020 GeneticVariation disease BEFREE Because DS children can also develop conventional acute myeloid leukemia with unfavorable outcome, detection of GATA1 mutations is important for diagnosis of ML-DS. 31606922 2020
CUI: C2825149
Disease: Myeloid leukemia associated with Down Syndrome
Myeloid leukemia associated with Down Syndrome 		0.020 AlteredExpression disease BEFREE In contrast, GATA1f expression was detected in megakaryocytes in all specimen types from patients without DS (normal bone marrows, pediatric myelodysplastic syndrome, juvenile myelomonocytic leukemia, adult acute megakaryocytic leukemia [pediatric and adult; without trisomy 2]), as well as normal bone marrows from patients with DS. 29481579 2018