STXBP2, syntaxin binding protein 2, 6813

N. diseases: 37; N. variants: 12
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: C0002792
Disease: anaphylaxis
anaphylaxis 		phenotype Immune System Diseases Disease or Syndrome 180 4 0.010 None 1.000 1 2018 2018
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 2015 2015
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 62 9 0.010 None 1.000 1 2019 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2013 2013
CUI: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic 		disease Disease or Syndrome 36 2 0.110 None 1.000 1 2015 2015
CUI: C1096155
Disease: Macrophage Activation Syndrome
Macrophage Activation Syndrome 		disease Immune System Diseases Disease or Syndrome 57 6 0.010 None 1.000 1 2014 2014
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.010 None 1.000 1 2013 2013
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1171 66 0.010 None 1.000 1 2013 2013
CUI: C1333064
Disease: Classical Hodgkin's Lymphoma
Classical Hodgkin's Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 285 20 0.010 None 1.000 1 2013 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2013 2013
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.010 None 1.000 1 2019 2019
CUI: C2347747
Disease: Adult Classical Hodgkin Lymphoma
Adult Classical Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 233 10 0.010 None 1.000 1 2013 2013
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 450 128 0.010 None 1.000 1 2014 2014
CUI: C3854388
Disease: Hyperferritinaemia
Hyperferritinaemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 4 0.010 None 1.000 1 2019 2019
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 81 4 0.010 None 1.000 1 2019 2019
CUI: C4289792
Disease: Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form
Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form 		disease Infections Disease or Syndrome 22 0.010 None 1.000 1 2015 2015
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 16 0.010 None 1.000 1 2017 2017
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis 		disease Digestive System Diseases Disease or Syndrome 190 22 0.010 None 1.000 1 2015 2015
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.010 None < 0.001 1 2015 2015
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.010 None 1.000 1 2013 2013
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.010 None 1.000 1 2019 2019
CUI: C0021831
Disease: Intestinal Diseases
Intestinal Diseases 		group Digestive System Diseases Disease or Syndrome 209 13 0.010 None 1.000 1 2017 2017
CUI: C0024299
Disease: Lymphoma
Lymphoma 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.010 None 1.000 1 2013 2013
CUI: C0267556
Disease: Osmotic diarrhea
Osmotic diarrhea 		disease Digestive System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2013 2013
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.010 None 1.000 1 2020 2020