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 CausalMutation disease CLINVAR Multiple Opportunistic Infections in a Woman with GATA2 Mutation. 27894982 2017
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND
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 Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2016
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 Biomarker disease CTD_human
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 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 SusceptibilityMutation disease ORPHANET
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 GeneticVariation disease BEFREE GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome. 28271814 2017
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2016
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 Biomarker disease BEFREE Patients with GATA2 (Emberger syndrome) deficiency needs early hematopoietic stem cell transplant (HSCT) before evolving in to myelodysplastic syndrome or acute myeloid leukemia and with time given compromised organ dysfunction leads to increase regimen-related toxicities. 28234738 2017
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 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 GeneticVariation disease CLINVAR Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. 26702063 2016
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 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 GeneticVariation disease BEFREE We report a case of Emberger syndrome with GATA2 mutation in a 9-year-old girl who presented with congenital sensorineural deafness, warts, lymphedema, and Myelodysplastic syndrome. 29189513 2018
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 Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 21892162 2011
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 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 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 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 GeneticVariation disease BEFREE Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158 2011