GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906631
rs387906631
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		0.820 GeneticVariation BEFREE Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr354Met), one patient with MDS/AML carrying a frameshift GATA2 mutation (p.Leu332Thrfs*53), another with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or MDS/AML who have large deletions encompassing the GATA2 locus. 22147895 2012
dbSNP: rs387906631
rs387906631
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		0.820 GeneticVariation BEFREE We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family. 21892162 2011
dbSNP: rs387906631
rs387906631
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		0.820 GeneticVariation UNIPROT We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family. 21892162 2011
dbSNP: rs387906631
rs387906631
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		A 0.820 SusceptibilityMutation CLINVAR
dbSNP: rs387906631
rs387906631
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3280030
Disease:
GATA2 Deficiency 		A 0.800 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: rs387906631
rs387906631
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3280030
Disease:
GATA2 Deficiency 		A 0.800 CausalMutation CLINVAR Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. 23365458 2013
dbSNP: rs387906629
rs387906629
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3280030
Disease:
GATA2 Deficiency 		0.800 GeneticVariation UNIPROT Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. 21670465 2011
dbSNP: rs387906630
rs387906630
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3280030
Disease:
GATA2 Deficiency 		0.800 GeneticVariation UNIPROT 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: C3280030
Disease:
GATA2 Deficiency 		0.800 GeneticVariation UNIPROT 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: C3280030
Disease:
GATA2 Deficiency 		A 0.800 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: C3280030
Disease:
GATA2 Deficiency 		A 0.800 CausalMutation CLINVAR Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 21892162 2011
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: rs387906629
rs387906629
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3280030
Disease:
GATA2 Deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387906630
rs387906630
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3280030
Disease:
GATA2 Deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387906633
rs387906633
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3279664
Disease:
Emberger Syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs387906631
rs387906631
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.720 GeneticVariation BEFREE Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr354Met), one patient with MDS/AML carrying a frameshift GATA2 mutation (p.Leu332Thrfs*53), another with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or MDS/AML who have large deletions encompassing the GATA2 locus. 22147895 2012
dbSNP: rs387906631
rs387906631
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.720 GeneticVariation CLINVAR Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr354Met), one patient with MDS/AML carrying a frameshift GATA2 mutation (p.Leu332Thrfs*53), another with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or MDS/AML who have large deletions encompassing the GATA2 locus. 22147895 2012
dbSNP: rs387906631
rs387906631
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.720 GeneticVariation BEFREE We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family. 21892162 2011
dbSNP: rs387906631
rs387906631
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.720 GeneticVariation CLINVAR Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. 21765025 2011
dbSNP: rs55914222
rs55914222
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C0428883
Disease:
Diastolic blood pressure 		C 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs1553770978
rs1553770978
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3280030
Disease:
GATA2 Deficiency 		G 0.700 GeneticVariation CLINVAR Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 29077208 2018
dbSNP: rs387906632
rs387906632
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3280030
Disease:
GATA2 Deficiency 		A 0.700 CausalMutation CLINVAR Multiple Opportunistic Infections in a Woman with GATA2 Mutation. 27894982 2017
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: rs62270945
rs62270945
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C0871470
Disease:
Systolic Pressure 		C 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 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