GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Disease: GATA2 Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 GeneticVariation disease BEFREE Germline mutation in GATA2 can lead to GATA2 deficiency characterized by a complex multi-system disorder that can present with many manifestations including variable cytopenias, bone marrow failure, myelodysplastic syndrome/acute myeloid leukemia (MDS/AML), and severe immunodeficiency. 30578959 2019
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 Biomarker disease BEFREE Mutational sensitization to stress that instigates hematopoietic failure constitutes a paradigm for GATA-2 deficiency syndrome and other contexts of GATA-2-dependent pathogenesis. 30620726 2019
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 Biomarker disease GENOMICS_ENGLAND Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients. 29724903 2018
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 Biomarker disease BEFREE Two previously reported adult GATA2-deficient patients died from severe H1N1 IAV infection; GATA2 deficiency may predispose to life-threatening influenza in adulthood. 29882021 2018
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 GeneticVariation disease CLINVAR Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 29077208 2018
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 GeneticVariation disease BEFREE GATA2 mutations have been identified in various diseases, such as MonoMAC syndrome, Emberger syndrome, familial myelodysplastic syndrome, acute myeloid leukaemia and dendritic cell, monocyte, B-cell and natural killer-cell deficiency. 28440875 2018
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 Biomarker disease BEFREE Because patients with GATA-2 deficiency syndrome could retain a wild-type copy of GATA-2, boosting residual wild-type GATA-2 activity may represent a novel therapeutic strategy for the disease. 29343653 2018
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 Biomarker disease BEFREE Thus, allogeneic hematopoietic stem cell transplant results in reconstitution of immunologic function and cure of EBV-associated malignancy in MonoMAC/GATA2 deficiency. 27924436 2017
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 CausalMutation disease CLINVAR Multiple Opportunistic Infections in a Woman with GATA2 Mutation. 27894982 2017
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 GeneticVariation disease BEFREE Heterozygous germline mutations in GATA2 have been initially associated with several clinical entities that are now collectively defined as GATA2 deficiency. 28643018 2017
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 AlteredExpression disease BEFREE GATA2 haploinsufficiency is implicated in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), and GATA2 overexpression portends a poor prognosis for AML. 27545880 2016
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 GeneticVariation disease CLINVAR Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2016
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 Biomarker disease GENOMICS_ENGLAND Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2016
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 GeneticVariation disease CLINVAR Single-gene association between GATA-2 and autoimmune hepatitis: A novel genetic insight highlighting immunologic pathways to disease. 26812071 2016
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 GeneticVariation disease CLINVAR Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. 26702063 2016
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 CausalMutation disease CLINVAR Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia. 25676417 2015
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 GeneticVariation disease CLINVAR Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood. 25879889 2015
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 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: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 Biomarker disease CLINGEN We hypothesized that mutations that are translated into abnormal proteins could affect the transcription of GATA2, triggering GATA2 deficiency. 25624456 2015
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 GeneticVariation disease CLINVAR Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. 26492932 2015
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 GeneticVariation disease BEFREE Heterozygous GATA-2 germline mutations are associated with overlapping clinical manifestations termed GATA-2 deficiency, characterized by immunodeficiency and predisposition to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). 24782121 2014
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 GeneticVariation disease CLINVAR Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation. 24077845 2014
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 GeneticVariation disease CLINVAR Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. 23365458 2013
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 Biomarker disease CLINGEN High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. 23223431 2013
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 CausalMutation disease CLINVAR GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. 23502222 2013