GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia
0.330 Biomarker disease GENOMICS_ENGLAND Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients. 29724903 2018
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia
0.330 Biomarker disease BEFREE Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC syndrome (Monocytopenia and Mycobacterium avium complex infections), DCML (dendritic cell, monocyte, and lymphocyte deficiency), familial MDS/AML (myelodysplastic syndrome/acute myeloid leukemia) (myeloid neoplasms), congenital neutropenia, congenital lymphedema (Emberger's syndrome), sensorineural deafness, viral warts, and a spectrum of aggressive infections seen across all age groups. 25619630 2015
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia
0.330 GeneticVariation disease BEFREE GATA2 mutations have been found in up to 10% of those with congenital neutropenia and/or aplastic anemia. 25397911 2015
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia
0.330 GeneticVariation disease BEFREE GATA2 mutations have also been reported in a minority of patients with congenital neutropenia and aplastic anemia (AA). 25359990 2015