Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome
1.000 GermlineCausalMutation ORPHANET HDR syndrome is a heterogeneous syndrome most commonly associated with GATA3 haploinsufficiency. 23757620

2014

Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome
1.000 GermlineCausalMutation ORPHANET These findings indicate that not only haploinsufficiency of GATA3 but also the dominant-negative effect of Cys321Ser-mutated GATA3 might have been responsible for the HDR syndrome phenotype of our patient. 21120445

2011

Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome
1.000 GermlineCausalMutation ORPHANET Investigation for GATA3 mutations in three other HDR probands identified one nonsense mutation and two intragenic deletions that predicted a loss of function, as confirmed by absence of DNA binding by the mutant GATA3 protein. 10935639

2000