GATA3, GATA binding protein 3, 2625

N. diseases: 429; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894163
rs104894163
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1840333
Disease:
Barakat syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894164
rs104894164
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1840333
Disease:
Barakat syndrome 		T 0.710 CausalMutation CLINVAR
dbSNP: rs104894162
rs104894162
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1840333
Disease:
Barakat syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894165
rs104894165
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1840333
Disease:
Barakat syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs112417755
rs112417755
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C2316810
Disease:
Chronic kidney disease stage 5 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1564405163
rs1564405163
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C2316786
Disease:
Chronic kidney disease stage 2 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1564405163
rs1564405163
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0452138
Disease:
Sensorineural hearing loss, bilateral 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1564405163
rs1564405163
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1840333
Disease:
Barakat syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1564405163
rs1564405163
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0020626
Disease:
Hypoparathyroidism 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1564405163
rs1564405163
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1843156
Disease:
Progressive sensorineural hearing impairment 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1564405163
rs1564405163
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C3714581
Disease:
Multicystic Dysplastic Kidney 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs387906551
rs387906551
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1840333
Disease:
Barakat syndrome 		GCTTACTTCCC 0.700 CausalMutation CLINVAR
dbSNP: rs387906621
rs387906621
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1840333
Disease:
Barakat syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs878853222
rs878853222
Entrez Id: 2625;107984204
Gene Symbol: GATA3;LOC107984204
GATA3;LOC107984204
CUI: C1840333
Disease:
Barakat syndrome 		TACCCGCCCTACGTGCCCACCACCCCATCAGCACTC 0.700 CausalMutation CLINVAR
dbSNP: rs3824662
rs3824662
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C4054188
Disease:
Ph-Like Acute Lymphoblastic Leukemia 		0.040 GeneticVariation BEFREE <i>GATA3</i> single nucleotide variant rs3824662 shows a strong association with Ph-like ALL (OR = 3.14). 30770347 2019
dbSNP: rs501764
rs501764
Entrez Id: 2625;399717
Gene Symbol: GATA3;GATA3-AS1
GATA3;GATA3-AS1
CUI: C0019829
Disease:
Hodgkin Disease 		C 0.800 GeneticVariation GWASCAT A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3). 21037568 2010
dbSNP: rs501764
rs501764
Entrez Id: 2625;399717
Gene Symbol: GATA3;GATA3-AS1
GATA3;GATA3-AS1
CUI: C0019829
Disease:
Hodgkin Disease 		C 0.800 GeneticVariation GWASDB A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3). 21037568 2010
dbSNP: rs3824662
rs3824662
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1961102
Disease:
Precursor Cell Lymphoblastic Leukemia Lymphoma 		A 0.800 GeneticVariation GWASCAT A genome-wide association study of susceptibility to acute lymphoblastic leukemia in adolescents and young adults. 25468567 2015
dbSNP: rs10905284
rs10905284
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0027430
Disease:
Nasal Polyps 		C 0.700 GeneticVariation GWASCAT A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis. 30643255 2019
dbSNP: rs4143094
rs4143094
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0035455
Disease:
Rhinitis 		0.010 GeneticVariation BEFREE A model with rs1058240, rs379568, and rs4143094 (GATA3) and rs1800925 (IL13) and their interactions was selected to predict rhinitis and positive SPT responses. rs1058240 was associated with rhinitis and allergic rhinitis (P < .05), and the gene-gene interaction rs1058240:rs1800925 was associated with rhinitis (P = .043). 18037162 2008
dbSNP: rs4143094
rs4143094
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C2607914
Disease:
Allergic rhinitis (disorder) 		0.010 GeneticVariation BEFREE A model with rs1058240, rs379568, and rs4143094 (GATA3) and rs1800925 (IL13) and their interactions was selected to predict rhinitis and positive SPT responses. rs1058240 was associated with rhinitis and allergic rhinitis (P < .05), and the gene-gene interaction rs1058240:rs1800925 was associated with rhinitis (P = .043). 18037162 2008
dbSNP: rs1058240
rs1058240
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0035455
Disease:
Rhinitis 		0.010 GeneticVariation BEFREE A model with rs1058240, rs379568, and rs4143094 (GATA3) and rs1800925 (IL13) and their interactions was selected to predict rhinitis and positive SPT responses. rs1058240 was associated with rhinitis and allergic rhinitis (P < .05), and the gene-gene interaction rs1058240:rs1800925 was associated with rhinitis (P = .043). 18037162 2008
dbSNP: rs1058240
rs1058240
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C2607914
Disease:
Allergic rhinitis (disorder) 		0.010 GeneticVariation BEFREE A model with rs1058240, rs379568, and rs4143094 (GATA3) and rs1800925 (IL13) and their interactions was selected to predict rhinitis and positive SPT responses. rs1058240 was associated with rhinitis and allergic rhinitis (P < .05), and the gene-gene interaction rs1058240:rs1800925 was associated with rhinitis (P = .043). 18037162 2008
dbSNP: rs104894163
rs104894163
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1840333
Disease:
Barakat syndrome 		0.800 GeneticVariation UNIPROT A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome. 26514990 2015
dbSNP: rs3802604
rs3802604
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE Analyses of pooled data suggested a reduced risk of breast cancer associated with two intronic variants in GATA3 in linkage disequilibrium (rs3802604 in intron 3 and rs570613 in intron 4). 18006915 2007