GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Disease: Emberger Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906633
rs387906633
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		0.800 GeneticVariation UNIPROT Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158 2011
dbSNP: rs387906633
rs387906633
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs387906632
rs387906632
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 CausalMutation CLINVAR Multiple Opportunistic Infections in a Woman with GATA2 Mutation. 27894982 2017
dbSNP: rs1426175410
rs1426175410
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2016
dbSNP: rs1426175410
rs1426175410
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR Single-gene association between GATA-2 and autoimmune hepatitis: A novel genetic insight highlighting immunologic pathways to disease. 26812071 2016
dbSNP: rs1559985787
rs1559985787
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. 26702063 2016
dbSNP: rs1426175410
rs1426175410
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood. 25879889 2015
dbSNP: rs1559985787
rs1559985787
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. 26492932 2015
dbSNP: rs387906631
rs387906631
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 CausalMutation 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
dbSNP: rs1426175410
rs1426175410
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation. 24077845 2014
dbSNP: rs1426175410
rs1426175410
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. 23502222 2013
dbSNP: rs1426175410
rs1426175410
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR Abstracts of the UK PIN (Primary Immunodeficiency Network) Meeting. December 6-7, 2013. Liverpool, United Kingdom. 24266605 2013
dbSNP: rs1559985787
rs1559985787
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. 23365458 2013
dbSNP: rs1559985787
rs1559985787
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. 23502222 2013
dbSNP: rs387906631
rs387906631
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 CausalMutation CLINVAR Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. 23365458 2013
dbSNP: rs387906632
rs387906632
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 CausalMutation CLINVAR GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. 23502222 2013
dbSNP: rs1426175410
rs1426175410
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158 2011
dbSNP: rs387906631
rs387906631
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 CausalMutation CLINVAR Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. 21670465 2011
dbSNP: rs387906631
rs387906631
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 CausalMutation CLINVAR Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 21892162 2011
dbSNP: rs387906632
rs387906632
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 CausalMutation CLINVAR Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158 2011
dbSNP: rs867160952
rs867160952
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		T 0.700 GeneticVariation CLINVAR Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158 2011
dbSNP: rs1553770434
rs1553770434
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553770510
rs1553770510
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553770949
rs1553770949
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		CGTCAG 0.700 CausalMutation CLINVAR
dbSNP: rs1559986109
rs1559986109
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		CTGTGGCCCCACAGT 0.700 CausalMutation CLINVAR