GATA1, GATA binding protein 1, 2623

N. diseases: 264; N. variants: 19
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 12 0.700 strong 1.000 23 12 1977 2014
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
disease Disease or Syndrome 1 5 0.700 None 1.000 11 5 2000 2018
ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
disease Disease or Syndrome 1 3 0.700 strong 1.000 6 3 2000 2018
Anemia due to decreased red cell production
disease Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
Myeloid Proliferations Associated with Down Syndrome
disease Neoplastic Process 1 0.010 None 1.000 1 2015 2015
CUI: C3267190
Disease: Fetal thrombotic vasculopathy
Fetal thrombotic vasculopathy
disease Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA
disease Finding 1 2 0.100 None 0 2
THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA
disease Finding 1 2 0.100 None 0 2
Dyserythropoietic Anemia with Thrombocytopenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 3 0.430 None 1.000 9 3 1996 2014
Transient Myeloproliferative Disorder of Down Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.310 None 1.000 2 2003 2013
CUI: C1394213
Disease: Crisis state
Crisis state
phenotype Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 2019 2019
CUI: C1516552
Disease: Overt Primary Myelofibrosis
Overt Primary Myelofibrosis
disease Hemic and Lymphatic Diseases Neoplastic Process 2 0.010 None 1.000 1 2018 2018
Congenital dyserythropoietic anemia type IV
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 6 0.010 None 1.000 1 2013 2013
Abnormality of multiple cell lineages in the bone marrow
disease Anatomical Abnormality 2 0.100 None 0
CUI: C0235813
Disease: Neonatal leukaemia
Neonatal leukaemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2014 2014
CUI: C1542667
Disease: Congenital erythroid hypoplasia
Congenital erythroid hypoplasia
disease Congenital Abnormality 3 0.010 None 1.000 1 2017 2017
Deficiency of Uroporphyrinogen III Synthase
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 2 0.300 None 1.000 1 2007 2007
CUI: C0023437
Disease: Acute Basophilic Leukemia
Acute Basophilic Leukemia
disease Neoplasms Neoplastic Process 5 0.320 None 1.000 2 2011 2019
CUI: C0279631
Disease: Adult Acute Basophilic Leukemia
Adult Acute Basophilic Leukemia
disease Neoplasms Neoplastic Process 5 0.020 None 1.000 2 2011 2019
CUI: C0279649
Disease: Childhood Acute Basophilic Leukemia
Childhood Acute Basophilic Leukemia
disease Neoplasms Neoplastic Process 5 0.020 None 1.000 2 2011 2019
Myeloid leukemia associated with Down Syndrome
disease Neoplasms Neoplastic Process 5 0.020 None 1.000 2 2018 2020
CUI: C4707057
Disease: Tetrasomy 21
Tetrasomy 21
disease Disease or Syndrome 6 0.010 None 1.000 1 2008 2008
CUI: C0410653
Disease: Atlantoaxial instability
Atlantoaxial instability
disease Disease or Syndrome 7 0.100 None 0
CUI: C0549448
Disease: Hemoglobin increased
Hemoglobin increased
phenotype Neoplasms; Hemic and Lymphatic Diseases Finding 7 0.100 None 0
CUI: C0795801
Disease: trisomy 2
trisomy 2
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 0.010 None 1.000 1 2018 2018