SH2B3, SH2B adaptor protein 3, 10019

N. diseases: 212; N. variants: 21
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: C0024528
Disease: Malaise and fatigue
Malaise and fatigue 		phenotype Sign or Symptom 2 1 0.100 None 0 1
CUI: C0494479
Disease: Other headache syndrome
Other headache syndrome 		disease Disease or Syndrome 2 1 0.100 None 0 1
CUI: C1367972
Disease: Phlebitis and thrombophlebitis
Phlebitis and thrombophlebitis 		disease Cardiovascular Diseases Disease or Syndrome 2 1 0.100 None 0 1
CUI: C0449439
Disease: Carrier status
Carrier status 		phenotype Finding 3 6 0.100 None 1.000 1 1 2018 2018
CUI: C0232370
Disease: Florid red complexion (finding)
Florid red complexion (finding) 		phenotype Finding 3 0.100 None 0
CUI: C1849749
Disease: Peripheral thrombosis
Peripheral thrombosis 		phenotype Pathologic Function 3 0.100 None 0
CUI: C0546817
Disease: Fluid overload
Fluid overload 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Pathologic Function 4 1 0.100 None 0 1
CUI: C1853288
Disease: Increased red blood cell mass
Increased red blood cell mass 		phenotype Hemic and Lymphatic Diseases Finding 4 0.100 None 0
CUI: C3277671
Disease: THROMBOCYTHEMIA 1
THROMBOCYTHEMIA 1 		disease Disease or Syndrome 5 4 0.100 None 0 2
CUI: C0201910
Disease: Beta-2-microglobulin measurement
Beta-2-microglobulin measurement 		phenotype Laboratory Procedure 6 7 0.100 None 1.000 1 1 2013 2013
CUI: C1332355
Disease: Autoimmune Hepatitis with Centrilobular Necrosis
Autoimmune Hepatitis with Centrilobular Necrosis 		disease Disease or Syndrome 6 3 0.100 None 1.000 1 1 2014 2014
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased 		phenotype Finding 7 1 0.100 None 0
CUI: C0549448
Disease: Hemoglobin increased
Hemoglobin increased 		phenotype Neoplasms; Hemic and Lymphatic Diseases Finding 7 0.100 None 0
CUI: C4025187
Disease: Increased megakaryocyte count
Increased megakaryocyte count 		phenotype Finding 7 0.100 None 0
CUI: C3489628
Disease: Thrombocytosis, Autosomal Dominant
Thrombocytosis, Autosomal Dominant 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 0.300 None 0
CUI: C0855742
Disease: Abnormal platelet morphology
Abnormal platelet morphology 		phenotype Finding 10 1 0.100 None 0
CUI: C1855853
Disease: Impaired platelet aggregation
Impaired platelet aggregation 		phenotype Finding 16 0.100 None 0
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		phenotype Finding 20 19 0.100 None 0 1
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 25 5 0.100 None 0
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		phenotype Laboratory Procedure 27 52 0.100 None 1.000 2 1 2011 2018
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		disease Hemic and Lymphatic Diseases Disease or Syndrome 29 14 0.400 None 0 2
CUI: C0151942
Disease: Arterial thrombosis
Arterial thrombosis 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 33 1 0.100 None 0
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 34 10 0.010 None 1.000 1 2019 2019
CUI: C1305849
Disease: Diastolic blood pressure measurement
Diastolic blood pressure measurement 		phenotype Diagnostic Procedure 35 81 0.100 None 1.000 3 1 2009 2013
CUI: C1739108
Disease: Latent Autoimmune Diabetes in Adults
Latent Autoimmune Diabetes in Adults 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 39 12 0.100 None 1.000 1 1 2018 2018