GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Disease: Lymphedema praecox ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238261
Disease: Lymphedema praecox
Lymphedema praecox 		0.030 GeneticVariation disease BEFREE GATA2 mutations are associated with several conditions, including Emberger syndrome which is the association of primary lymphedema with hematological anomalies and an increased risk for myelodysplasia and leukemia. 28271814 2017
CUI: C0238261
Disease: Lymphedema praecox
Lymphedema praecox 		0.030 Biomarker disease BEFREE Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. 22147895 2012
CUI: C0238261
Disease: Lymphedema praecox
Lymphedema praecox 		0.030 Biomarker disease BEFREE Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema and predisposes to acute myeloid leukemia in this syndrome. 21892158 2011