GATA1, GATA binding protein 1, 2623

N. diseases: 264; N. variants: 19
Disease: Dyserythropoietic Anemia with Thrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845837
Disease: Dyserythropoietic Anemia with Thrombocytopenia
Dyserythropoietic Anemia with Thrombocytopenia 		0.430 CausalMutation disease CLINVAR PML4 facilitates erythroid differentiation by enhancing the transcriptional activity of GATA-1. 24255919 2014
CUI: C1845837
Disease: Dyserythropoietic Anemia with Thrombocytopenia
Dyserythropoietic Anemia with Thrombocytopenia 		0.430 CausalMutation disease CLINVAR Analysis of disease-causing GATA1 mutations in murine gene complementation systems. 23704091 2013
CUI: C1845837
Disease: Dyserythropoietic Anemia with Thrombocytopenia
Dyserythropoietic Anemia with Thrombocytopenia 		0.430 CausalMutation disease CLINVAR GATA-1: one protein, many partners. 16095949 2006
CUI: C1845837
Disease: Dyserythropoietic Anemia with Thrombocytopenia
Dyserythropoietic Anemia with Thrombocytopenia 		0.430 CausalMutation disease CLINVAR GATA-1 forms distinct activating and repressive complexes in erythroid cells. 15920471 2005
CUI: C1845837
Disease: Dyserythropoietic Anemia with Thrombocytopenia
Dyserythropoietic Anemia with Thrombocytopenia 		0.430 GeneticVariation disease BEFREE Dyserythropoietic anemia and thrombocytopenia due to a novel mutation in GATA-1. 16103636 2005
CUI: C1845837
Disease: Dyserythropoietic Anemia with Thrombocytopenia
Dyserythropoietic Anemia with Thrombocytopenia 		0.430 Biomarker disease BEFREE We conclude that the nature of the amino acid substitution at position 218 of the Nf of GATA1 is of crucial importance in determining the severity of the phenotype in X-linked macrothrombocytopenia patients and possibly also in inducing skewed X inactivation. 11809723 2002
CUI: C1845837
Disease: Dyserythropoietic Anemia with Thrombocytopenia
Dyserythropoietic Anemia with Thrombocytopenia 		0.430 CausalMutation disease CLINVAR In vivo requirements for GATA-1 functional domains during primitive and definitive erythropoiesis. 11566888 2001
CUI: C1845837
Disease: Dyserythropoietic Anemia with Thrombocytopenia
Dyserythropoietic Anemia with Thrombocytopenia 		0.430 GeneticVariation disease BEFREE In conclusion, GATA1 mutations can lead to isolated X-linked macrothrombocytopenia without anemia. 11418466 2001
CUI: C1845837
Disease: Dyserythropoietic Anemia with Thrombocytopenia
Dyserythropoietic Anemia with Thrombocytopenia 		0.430 CausalMutation disease CLINVAR A palindromic regulatory site within vertebrate GATA-1 promoters requires both zinc fingers of the GATA-1 DNA-binding domain for high-affinity interaction. 8628290 1996
CUI: C1845837
Disease: Dyserythropoietic Anemia with Thrombocytopenia
Dyserythropoietic Anemia with Thrombocytopenia 		0.430 GermlineCausalMutation disease ORPHANET