GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Disease: Hypocellular Myelodysplastic Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4054752
Disease: Hypocellular Myelodysplastic Syndrome
Hypocellular Myelodysplastic Syndrome 		0.010 AlteredExpression disease BEFREE Inherited or sporadic heterozygous mutations in the transcription factor GATA2 lead to a clinical syndrome characterized by non-tuberculous mycobacterial and other opportunistic infections, a severe deficiency in monocytes, B cells and natural killer cells, and progression from a hypocellular myelodysplastic syndrome to myeloid leukemias. 24077845 2014