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: rs3824660
rs3824660
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0003873
Disease:
Rheumatoid Arthritis
T 0.800 GeneticVariation GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114 2019
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: 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: rs3824660
rs3824660
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0003873
Disease:
Rheumatoid Arthritis
C 0.800 GeneticVariation GWASCAT Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
dbSNP: rs3824660
rs3824660
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0003873
Disease:
Rheumatoid Arthritis
C 0.800 GeneticVariation GWASDB Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
dbSNP: rs3824662
rs3824662
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1961102
Disease:
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.800 GeneticVariation GWASDB Inherited GATA3 variants are associated with Ph-like childhood acute lymphoblastic leukemia and risk of relapse. 24141364 2013
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 Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. 24149102 2013
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 Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. 24149102 2013
dbSNP: rs2275806
rs2275806
Entrez Id: 2625;399717
Gene Symbol: GATA3;GATA3-AS1
GATA3;GATA3-AS1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.800 GeneticVariation GWASDB High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
dbSNP: rs2275806
rs2275806
Entrez Id: 2625;399717
Gene Symbol: GATA3;GATA3-AS1
GATA3;GATA3-AS1
CUI: C0003873
Disease:
Rheumatoid Arthritis
G 0.800 GeneticVariation GWASCAT High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
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: rs104894163
rs104894163
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1840333
Disease:
Barakat syndrome
0.800 GeneticVariation UNIPROT GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. 11389161 2001
dbSNP: rs104894163
rs104894163
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1840333
Disease:
Barakat syndrome
0.800 GeneticVariation UNIPROT GATA3 haplo-insufficiency causes human HDR syndrome. 10935639 2000
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
0.710 GeneticVariation BEFREE Together with other reported cases, this study highlights the variability of HDR syndrome symptoms in individuals with the p.Arg367* mutation, emphasizing the importance of molecular analyses for correct diagnosis. 30534854 2020
dbSNP: rs3802604
rs3802604
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.710 GeneticVariation BEFREE We identified four T1D risk loci reaching genome-wide significance in the Chinese Han population, including two novel loci, rs4320356 near <i>BTN3A1</i> (odds ratio [OR] 1.26, <i>P</i> = 2.70 × 10<sup>-8</sup>) and rs3802604 in <i>GATA3</i> (OR 1.24, <i>P</i> = 2.06 × 10<sup>-8</sup>), and two previously reported loci, rs1770 in MHC (OR 4.28, <i>P</i> = 2.25 × 10<sup>-232</sup>) and rs705699 in <i>SUOX</i> (OR 1.46, <i>P</i> = 7.48 × 10<sup>-20</sup>). 31152121 2019
dbSNP: rs3802604
rs3802604
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
C 0.710 GeneticVariation GWASCAT We identified four T1D risk loci reaching genome-wide significance in the Chinese Han population, including two novel loci, rs4320356 near <i>BTN3A1</i> (odds ratio [OR] 1.26, <i>P</i> = 2.70 × 10<sup>-8</sup>) and rs3802604 in <i>GATA3</i> (OR 1.24, <i>P</i> = 2.06 × 10<sup>-8</sup>), and two previously reported loci, rs1770 in MHC (OR 4.28, <i>P</i> = 2.25 × 10<sup>-232</sup>) and rs705699 in <i>SUOX</i> (OR 1.46, <i>P</i> = 7.48 × 10<sup>-20</sup>). 31152121 2019
dbSNP: rs4143094
rs4143094
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0009402
Disease:
Colorectal Carcinoma
0.710 GeneticVariation BEFREE The risk of colorectal cancer associated with processed meat was increased among individuals with the rs4143094-TG and -TT genotypes (OR = 1.20 and OR = 1.39, respectively) and null among those with the GG genotype (OR = 1.03). 24743840 2014
dbSNP: rs4143094
rs4143094
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0009402
Disease:
Colorectal Carcinoma
T 0.710 GeneticVariation GWASCAT The risk of colorectal cancer associated with processed meat was increased among individuals with the rs4143094-TG and -TT genotypes (OR = 1.20 and OR = 1.39, respectively) and null among those with the GG genotype (OR = 1.03). 24743840 2014
dbSNP: rs104894164
rs104894164
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1840333
Disease:
Barakat syndrome
T 0.710 CausalMutation CLINVAR
dbSNP: rs10905284
rs10905284
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0004096
Disease:
Asthma
C 0.700 GeneticVariation GWASCAT Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study. 30552067 2019
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: rs11255504
rs11255504
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0741260
Disease:
Adult onset asthma
T 0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs11255504
rs11255504
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0004096
Disease:
Asthma
T 0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019