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: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic 		disease Disease or Syndrome 36 2 0.110 None 1.000 1 2015 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2013 2013
CUI: C0241013
Disease: Increased serum ferritin
Increased serum ferritin 		phenotype Finding 23 1 0.100 None 0
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		phenotype Sign or Symptom 48 4 0.100 None 0
CUI: C4023012
Disease: Abnormal natural killer cell physiology
Abnormal natural killer cell physiology 		phenotype Pathologic Function 1 0.100 None 0
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: C0021831
Disease: Intestinal Diseases
Intestinal Diseases 		group Digestive System Diseases Disease or Syndrome 209 13 0.010 None 1.000 1 2017 2017
CUI: C0267556
Disease: Osmotic diarrhea
Osmotic diarrhea 		disease Digestive System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2013 2013
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: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 213 23 0.010 None 1.000 1 2015 2015
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 35 6 0.500 None 0.952 21 1 2001 2019
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		disease Hemic and Lymphatic Diseases Disease or Syndrome 1 9 0.710 None 1.000 13 9 2009 2017
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 117 13 0.070 None 1.000 7 1 2010 2019
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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.010 None 1.000 1 2020 2020
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: 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: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		group Infections Disease or Syndrome 384 72 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: C0035021
Disease: Relapsing Fever
Relapsing Fever 		disease Infections Disease or Syndrome 48 2 0.100 None 0
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: 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