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: C3840212
Disease: Cannabis withdrawal
Cannabis withdrawal 		disease Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2018 2018
CUI: C0029163
Disease: Oral Hemorrhage
Oral Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Pathologic Function 1 0.100 None 0
CUI: C1833172
Disease: Abnormal delayed hypersensitivity skin test
Abnormal delayed hypersensitivity skin test 		phenotype Finding 1 0.100 None 0
CUI: C1833173
Disease: Absent microvilli on the surface of peripheral blood lymphocytes
Absent microvilli on the surface of peripheral blood lymphocytes 		phenotype Finding 1 0.100 None 0
CUI: C1839164
Disease: Thrombocytopenia, X-Linked, Intermittent
Thrombocytopenia, X-Linked, Intermittent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 2 0.100 None 0 2
CUI: C4016481
Disease: WISKOTT-ALDRICH SYNDROME, ATTENUATED
WISKOTT-ALDRICH SYNDROME, ATTENUATED 		disease Finding 1 1 0.100 None 0 1
CUI: C4021766
Disease: Reduced lymphocyte surface expression of CD43
Reduced lymphocyte surface expression of CD43 		phenotype Finding 1 0.100 None 0
CUI: C0392170
Disease: Fibrotic lymphadenopathy
Fibrotic lymphadenopathy 		disease Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0427544
Disease: Monocytopenia
Monocytopenia 		phenotype Finding 2 0.100 None 0
CUI: C0855999
Disease: Abnormal eosinophil morphology
Abnormal eosinophil morphology 		phenotype Finding 3 0.100 None 0
CUI: C1096368
Disease: Decreased mean platelet volume
Decreased mean platelet volume 		phenotype Laboratory or Test Result 3 0.100 None 0
CUI: C1845987
Disease: Neutropenia, Severe Congenital, X-Linked
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: C0854145
Disease: Feeding Disorders
Feeding Disorders 		disease Mental Disorders Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C1839167
Disease: Intermittent thrombocytopenia
Intermittent thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Finding 4 1 0.100 None 0
CUI: C0343755
Disease: HIV Wasting Syndrome
HIV Wasting Syndrome 		disease Nutritional and Metabolic Diseases; Infections; Immune System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2003 2003
CUI: C4021747
Disease: Specific anti-polysaccharide antibody deficiency
Specific anti-polysaccharide antibody deficiency 		phenotype Finding 6 0.100 None 0
CUI: C3805919
Disease: Recurrent intrapulmonary hemorrhage
Recurrent intrapulmonary hemorrhage 		phenotype Finding 7 0.100 None 0
CUI: C4511035
Disease: Isolated thrombocytopenia
Isolated thrombocytopenia 		disease Disease or Syndrome 10 9 0.020 None < 0.001 2 1995 1996
CUI: C0855742
Disease: Abnormal platelet morphology
Abnormal platelet morphology 		phenotype Finding 10 1 0.100 None 0
CUI: C4025888
Disease: Abnormality of the menstrual cycle
Abnormality of the menstrual cycle 		disease Pathological Conditions, Signs and Symptoms Finding 11 1 0.100 None 0
CUI: C3888552
Disease: Autoimmune colitis
Autoimmune colitis 		disease Disease or Syndrome 12 0.010 None 1.000 1 2015 2015
CUI: C0578878
Disease: Inflammation of large intestine
Inflammation of large intestine 		phenotype Digestive System Diseases Disease or Syndrome 12 1 0.100 None 0
CUI: C1321898
Disease: Blood in stool
Blood in stool 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom 13 2 0.010 None 1.000 1 2013 2013
CUI: C0018924
Disease: Hemarthrosis
Hemarthrosis 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 13 0.100 None 0
CUI: C4023113
Disease: Small vessel vasculitis
Small vessel vasculitis 		disease Cardiovascular Diseases Disease or Syndrome 13 0.100 None 0