GATA3, GATA binding protein 3, 2625

N. diseases: 429; N. variants: 30
Disease: Barakat syndrome ×
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 		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: 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