WAS, WASP actin nucleation promoting factor, 7454

N. diseases: 204; N. variants: 37
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: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.100 None 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.100 None 0
Reduced lymphocyte surface expression of CD43
phenotype Finding 1 0.100 None 0
Specific anti-polysaccharide antibody deficiency
phenotype Finding 6 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0
CUI: C0855999
Disease: Abnormal eosinophil morphology
Abnormal eosinophil morphology
phenotype Finding 3 0.100 None 0
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 83 21 0.100 None 0
CUI: C0855742
Disease: Abnormal platelet morphology
Abnormal platelet morphology
phenotype Finding 10 1 0.100 None 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function
phenotype Finding 21 2 0.100 None 0
WISKOTT-ALDRICH SYNDROME, ATTENUATED
disease Finding 1 1 0.100 None 0 1
CUI: C0013404
Disease: Dyspnea
Dyspnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.100 None 0
CUI: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 34 0.100 None 0
CUI: C0241144
Disease: Petechiae of skin
Petechiae of skin
phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Sign or Symptom 54 2 0.100 None 0
CUI: C0009763
Disease: Conjunctivitis
Conjunctivitis
disease Eye Diseases Disease or Syndrome 82 1 0.100 None 0
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.100 None 0
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease
group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.100 None 0
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature
phenotype Anatomical Abnormality 24 0.100 None 0
CUI: C0008031
Disease: Chest Pain
Chest Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 154 7 0.100 None 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
phenotype Digestive System Diseases Finding 103 6 0.100 None 0 1
CUI: C3160814
Disease: Cannabis use
Cannabis use
disease Mental or Behavioral Dysfunction 74 44 0.100 None 0.900 10 1975 2020
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 95 34 1.000 definitive 0.987 156 30 1994 2020
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 30 18 0.800 strong 1.000 68 16 1995 2019
Neutropenia, Severe Congenital, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 4 14 0.710 strong 1.000 34 12 1995 2017
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 0.130 None 1.000 3 1995 2015
CUI: C4511035
Disease: Isolated thrombocytopenia
Isolated thrombocytopenia
disease Disease or Syndrome 10 9 0.020 None < 0.001 2 1995 1996