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 Biomarker disease GENOMICS_ENGLAND
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 Biomarker disease CTD_human
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 GeneticVariation disease BEFREE MonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature. 23728141 2013
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 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 GeneticVariation disease CLINVAR Abstracts of the UK PIN (Primary Immunodeficiency Network) Meeting. December 6-7, 2013. Liverpool, United Kingdom. 24266605 2013
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 Biomarker disease CLINGEN An early haematopoietic defect in mice lacking the transcription factor GATA-2. 8078582 1994
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 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 Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 29077208 2018
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 Biomarker disease CLINGEN Conditional Gata2 inactivation results in HSC loss and lymphatic mispatterning. 22996665 2012
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 CLINGEN Establishing the transcriptional programme for blood: the SCL stem cell enhancer is regulated by a multiprotein complex containing Ets and GATA factors. 12065417 2002
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 GeneticVariation disease BEFREE Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. 21765025 2011
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 GermlineCausalMutation disease ORPHANET Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. 21765025 2011
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
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 Biomarker disease CLINGEN GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. 23502222 2013
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 GeneticVariation disease CLINVAR GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. 23502222 2013
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 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 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 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 GENOMICS_ENGLAND Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 21892162 2011