GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Disease: GATA2 Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1559985787
rs1559985787
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3280030
Disease:
GATA2 Deficiency 		A 0.700 GeneticVariation CLINVAR Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. 26702063 2016
dbSNP: rs1559985787
rs1559985787
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3280030
Disease:
GATA2 Deficiency 		A 0.700 GeneticVariation CLINVAR Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. 26492932 2015
dbSNP: rs1559985787
rs1559985787
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3280030
Disease:
GATA2 Deficiency 		A 0.700 GeneticVariation CLINVAR GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. 23502222 2013
dbSNP: rs1559985787
rs1559985787
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C3280030
Disease:
GATA2 Deficiency 		A 0.700 GeneticVariation CLINVAR Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. 23365458 2013