Disease-gene associations mined from literature

Literature associating GATA1 and X-linked thrombocytopenia with beta-thalassemia

GATA1 [ENSP00000365858]

GATA binding protein 1 (globin transcription factor 1); Transcriptional activator or repressor which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS; GATA zinc finger domain containing

Synonyms:  GATA1,  GATA1p,  hGATA1,  B7WNQ9,  GATA1-001 ...

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