ITK, IL2 inducible T cell kinase, 3702

N. diseases: 117; 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: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1 		disease Disease or Syndrome 1 3 0.700 definitive 1.000 7 3 1997 2015
CUI: C2751686
Disease: Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 None 0
CUI: C4283841
Disease: ITK Deficiency
ITK Deficiency 		disease Immune System Diseases Disease or Syndrome 4 0.310 strong 1.000 2 2011 2019
CUI: C0395886
Disease: Cholesteatoma, Congenital
Cholesteatoma, Congenital 		disease Skin and Connective Tissue Diseases Congenital Abnormality 8 0.010 None 1.000 1 2019 2019
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 10 7 0.010 None 1.000 1 2011 2011
CUI: C0024307
Disease: Lymphomatoid Granulomatosis
Lymphomatoid Granulomatosis 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 11 1 0.010 None 1.000 1 1 2019 2019
CUI: C0334619
Disease: HODGKIN'S AND NON-HODGKIN'S LYMPHOMA
HODGKIN'S AND NON-HODGKIN'S LYMPHOMA 		disease Neoplastic Process 17 1 0.010 None 1.000 1 2018 2018
CUI: C0233849
Disease: Personality Traits
Personality Traits 		group Behavior and Behavior Mechanisms Finding 24 78 0.100 None 1.000 1 1 2011 2011
CUI: C3887558
Disease: Hemophagocytic Syndrome
Hemophagocytic Syndrome 		disease Hemic and Lymphatic Diseases Disease or Syndrome 25 3 0.010 None 1.000 1 2015 2015
CUI: C1332078
Disease: Anaplastic large cell lymphoma, ALK negative
Anaplastic large cell lymphoma, ALK negative 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 28 0.010 None 1.000 1 2006 2006
CUI: C0155490
Disease: Middle Ear Cholesteatoma
Middle Ear Cholesteatoma 		disease Skin and Connective Tissue Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 29 0.010 None 1.000 1 2019 2019
CUI: C0151632
Disease: ESR raised
ESR raised 		phenotype Finding 36 0.100 None 0
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 49 10 0.020 None 1.000 2 2011 2014
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		disease Infections; Skin and Connective Tissue Diseases Neoplastic Process 64 9 0.010 None 1.000 1 2011 2011
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 68 69 0.010 None 1.000 1 2013 2013
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		phenotype Pathologic Function 70 0.100 None 0
CUI: C3495949
Disease: Locally advanced breast cancer
Locally advanced breast cancer 		disease Neoplastic Process 71 3 0.010 None 1.000 1 2018 2018
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 76 2 0.010 None 1.000 1 2019 2019
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		disease Stomatognathic Diseases Disease or Syndrome 80 22 0.100 None 0
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 86 11 0.300 strong 1.000 1 2011 2011
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 89 19 0.010 None 1.000 1 2017 2017
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		disease Immune System Diseases Disease or Syndrome 89 4 0.010 None 1.000 1 2011 2011
CUI: C0549523
Disease: Oropharynx (excludes nasopharynx)
Oropharynx (excludes nasopharynx) 		disease Disease or Syndrome 94 5 0.010 None 1.000 1 2017 2017
CUI: C0020981
Disease: Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic Lymphadenopathy 		disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 109 8 0.020 None 1.000 2 2014 2014
CUI: C0038362
Disease: Stomatitis
Stomatitis 		disease Stomatognathic Diseases Disease or Syndrome 109 22 0.100 None 0