GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Disease: Familial Acute Myeloid Leukemia with Mutated Cebpa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711382
Disease: Familial Acute Myeloid Leukemia with Mutated Cebpa
Familial Acute Myeloid Leukemia with Mutated Cebpa 		0.020 GeneticVariation disease BEFREE Currently, Clinical Laboratory Improvement Amendments-approved testing exists for the following: familial platelet disorder with propensity to acute myeloid leukemia, caused by mutations in RUNX1; familial myelodysplastic syndrome/acute myeloid leukemia with mutated GATA2; familial acute myeloid leukemia with mutated CEBPA; and the inherited bone marrow failure syndromes, including dyskeratosis congenita, a disease of abnormal telomere maintenance. 25311743 2014
CUI: C3711382
Disease: Familial Acute Myeloid Leukemia with Mutated Cebpa
Familial Acute Myeloid Leukemia with Mutated Cebpa 		0.020 GeneticVariation disease BEFREE GATA2 mutations in sporadic and familial acute myeloid leukaemia patients with CEBPA mutations. 23560626 2013