GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Disease: Emberger Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 Biomarker disease CTD_human
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 SusceptibilityMutation disease ORPHANET
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. 20803646 2010
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 CausalMutation disease CLINVAR Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158 2011
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 GeneticVariation disease CLINVAR Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158 2011
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 CausalMutation disease CLINVAR Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. 21670465 2011
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 CausalMutation disease CLINVAR Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 21892162 2011
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 GeneticVariation disease UNIPROT Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158 2011
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 GeneticVariation disease BEFREE Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158 2011
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158 2011
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 21892162 2011
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 GeneticVariation disease CLINVAR GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. 23502222 2013
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 GeneticVariation disease CLINVAR Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. 23365458 2013
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 CausalMutation disease CLINVAR Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. 23365458 2013
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 GeneticVariation disease CLINVAR Abstracts of the UK PIN (Primary Immunodeficiency Network) Meeting. December 6-7, 2013. Liverpool, United Kingdom. 24266605 2013
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 CausalMutation disease CLINVAR GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. 23502222 2013
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 GeneticVariation disease CLINVAR Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation. 24077845 2014
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 Biomarker disease BEFREE A pattern of dendritic cell, monocyte, B, and natural killer (NK) lymphoid deficiency (DCML deficiency) with elevated Fms-like tyrosine kinase 3 ligand (Flt3L) was observed in all 20 patients phenotyped, including patients with Emberger syndrome, monocytopenia with Mycobacterium avium complex (MonoMAC), and MDS. 24345756 2014
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 GeneticVariation disease CLINVAR Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood. 25879889 2015
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 GeneticVariation disease CLINVAR Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. 26492932 2015
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 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: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 Biomarker disease BEFREE Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been shown to underlie a range of clinical phenotypes, including Emberger syndrome, a disorder characterized by lymphedema and predisposition to myelodysplastic syndrome/acute myeloid leukemia (MDS/AML). 26214525 2015
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 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: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 GeneticVariation disease CLINVAR Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2016