GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
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.
Abnormal natural killer cell morphology
disease Anatomical Abnormality 2 1 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
phenotype Finding 1 7 0.100 None 0 6
CUI: C0427544
Disease: Monocytopenia
Monocytopenia
phenotype Finding 2 0.100 None 0
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 512 264 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 115 6 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
Recurrent mycobacterium avium complex infections
phenotype Finding 2 0.100 None 0
CUI: C0024236
Disease: Lymphedema
Lymphedema
disease Hemic and Lymphatic Diseases Pathologic Function 61 1 0.400 None 1.000 1 2011 2011
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 2010 2010
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 99 12 0.300 None 1.000 1 2010 2010
CUI: C0085700
Disease: Chondromalacia
Chondromalacia
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 8 0.300 None 1.000 1 2010 2010
CUI: C0007302
Disease: Cartilage Diseases
Cartilage Diseases
group Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 23 0.300 None 1.000 1 2010 2010
CUI: C0024116
Disease: Lung Diseases, Fungal
Lung Diseases, Fungal
group Infections; Respiratory Tract Diseases Disease or Syndrome 9 0.200 None 1.000 1 2006 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
group Hemic and Lymphatic Diseases Neoplastic Process 365 43 0.110 None 1.000 1 2019 2019
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.110 None 1.000 1 2013 2013
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2017 2017
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2019 2019
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
group Immune System Diseases Disease or Syndrome 93 23 0.010 None 1.000 1 2020 2020
CUI: C0553576
Disease: Systemic mycosis
Systemic mycosis
disease Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C4049615
Disease: Megaureter
Megaureter
disease Congenital Abnormality 8 0.010 None 1.000 1 2008 2008
CUI: C2347762
Disease: Childhood Teratoma
Childhood Teratoma
disease Neoplasms Neoplastic Process 95 3 0.010 None 1.000 1 2017 2017