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: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		disease Disease or Syndrome 8 13 0.010 None 1.000 1 2011 2011
CUI: C1854910
Disease: Shallow acetabular fossae
Shallow acetabular fossae 		phenotype Finding 8 0.100 None 0
CUI: C1320638
Disease: Bone marrow myeloid dysplasia
Bone marrow myeloid dysplasia 		disease Hemic and Lymphatic Diseases Neoplastic Process 9 0.010 None 1.000 1 2009 2009
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding 		phenotype Finding 9 1 0.100 None 0
CUI: C1844374
Disease: Persistent bleeding after trauma
Persistent bleeding after trauma 		phenotype Finding 9 0.100 None 0
CUI: C1860789
Disease: Leukemia, Megakaryoblastic, of Down Syndrome
Leukemia, Megakaryoblastic, of Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 9 1 0.100 None 0 1
CUI: C0678199
Disease: Anemia of inadequate production
Anemia of inadequate production 		disease Hemic and Lymphatic Diseases Disease or Syndrome 10 3 0.130 None 1.000 3 2 2002 2016
CUI: C0522153
Disease: Urine Discoloration
Urine Discoloration 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 10 1 0.100 None 0
CUI: C4023026
Disease: Abnormal megakaryocyte morphology
Abnormal megakaryocyte morphology 		disease Finding 10 0.100 None 0
CUI: C0271985
Disease: Delta-Beta Thalassemia
Delta-Beta Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 12 0.010 None 1.000 1 1992 1992
CUI: C0427480
Disease: Elliptocytosis found
Elliptocytosis found 		phenotype Finding 12 0.100 None 0
CUI: C0221281
Disease: Poikilocytosis
Poikilocytosis 		phenotype Finding 14 0.100 None 0
CUI: C1303007
Disease: Brushfield spots
Brushfield spots 		phenotype Finding 14 0.100 None 0
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 15 0.100 None 0
CUI: C2698117
Disease: Anisocyte Measurement
Anisocyte Measurement 		phenotype Laboratory Procedure 15 0.100 None 0
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: C4551511
Disease: X-linked sideroblastic anemia
X-linked sideroblastic anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 16 23 0.010 None 1.000 1 2019 2019
CUI: C0002884
Disease: Hypochromic anemia
Hypochromic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 16 0.100 None 0
CUI: C0022573
Disease: Keratoconjunctivitis
Keratoconjunctivitis 		disease Eye Diseases Disease or Syndrome 16 3 0.100 None 0
CUI: C0221278
Disease: Anisocytosis
Anisocytosis 		phenotype Finding 16 1 0.100 None 0
CUI: C1834060
Disease: Short middle phalanx of the 5th finger
Short middle phalanx of the 5th finger 		phenotype Finding 17 0.100 None 0
CUI: C0033027
Disease: Preleukemia
Preleukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 19 0.030 None 1.000 3 2004 2012
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 3 0.110 None 1.000 1 2008 2008
CUI: C0678128
Disease: Friend leukemia
Friend leukemia 		disease Neoplasms Neoplastic Process 19 0.010 None < 0.001 1 2019 2019
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