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.
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.900 strong 0.947 19 3 1995 2020
CUI: C1839161
Disease: Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
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
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 38 0.700 strong 1.000 21 4 1996 2019
CUI: C3550789
Disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA 		disease Disease or Syndrome 1 5 0.700 None 1.000 11 5 2000 2018
CUI: C3550856
Disease: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
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
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 20 26 0.550 None 1.000 5 1 2001 2019
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		disease Neoplasms Neoplastic Process 159 15 0.500 None 0.955 66 1 2002 2018
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.500 strong 1.000 12 3 2000 2019
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia 		phenotype Hemic and Lymphatic Diseases Pathologic Function 38 0.500 None 1.000 2 1998 2017
CUI: C1845837
Disease: Dyserythropoietic Anemia with Thrombocytopenia
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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.400 None 0.981 104 2002 2020
CUI: C1834582
Disease: MYELOPROLIFERATIVE SYNDROME, TRANSIENT
MYELOPROLIFERATIVE SYNDROME, TRANSIENT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 105 9 0.400 None 0.970 67 2003 2020
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.400 None 1.000 17 1 1999 2020
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.400 strong 1.000 1 2012 2012
CUI: C0023437
Disease: Acute Basophilic Leukemia
Acute Basophilic Leukemia 		disease Neoplasms Neoplastic Process 5 0.320 None 1.000 2 2011 2019
CUI: C1860788
Disease: Transient Myeloproliferative Disorder of Down Syndrome
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: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 16 5 0.300 None 1.000 2 2012 2014
CUI: C2718078
Disease: Deficiency of Uroporphyrinogen III Synthase
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: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		phenotype Finding 34 0.300 moderate 0
CUI: C0432416
Disease: Down Syndrome, Partial Trisomy 21
Down Syndrome, Partial Trisomy 21 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0.300 None 0
CUI: C0432417
Disease: Trisomy 21, Meiotic Nondisjunction
Trisomy 21, Meiotic Nondisjunction 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0.300 None 0
CUI: C0751081
Disease: Trisomy 21, Mitotic Nondisjunction
Trisomy 21, Mitotic Nondisjunction 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0.300 None 0
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 282 29 0.290 None 1.000 11 2001 2020
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 163 7 0.270 None 1.000 9 2001 2020
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		group Hemic and Lymphatic Diseases Neoplastic Process 365 43 0.200 None 1.000 11 2003 2020