BTK, Bruton tyrosine kinase, 695

N. diseases: 290; N. variants: 85
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: C0004368
Disease: Autoimmune state
Autoimmune state 		phenotype Pathologic Function 70 0.100 None 0
CUI: C4025683
Disease: Lymph node hypoplasia
Lymph node hypoplasia 		phenotype Finding 4 0.100 None 0
CUI: C4025681
Disease: Recurrent enteroviral infections
Recurrent enteroviral infections 		phenotype Finding 5 0.100 None 0
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5 0.010 None 1.000 1 1994 1994
CUI: C0024302
Disease: Reticulosarcoma
Reticulosarcoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 80 2 0.010 None 1.000 1 1994 1994
CUI: C4520840
Disease: Erythroleukemia (Erythroid/Myeloid)
Erythroleukemia (Erythroid/Myeloid) 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 237 4 0.010 None 1.000 1 1994 1994
CUI: C0334663
Disease: Histiocytic sarcoma
Histiocytic sarcoma 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 69 8 0.010 None 1.000 1 1994 1994
CUI: C0032131
Disease: Plasmacytoma
Plasmacytoma 		disease Neoplasms; Immune System Diseases Neoplastic Process 142 8 0.010 None 1.000 1 1994 1994
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 1 0.010 None 1.000 1 1994 1994
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		disease Neoplastic Process 236 4 0.010 None 1.000 1 1994 1994
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 108 206 0.010 None 1.000 1 1995 1995
CUI: C0745242
Disease: Immunoglobulin deficiency
Immunoglobulin deficiency 		disease Immune System Diseases Disease or Syndrome 8 0.010 None 1.000 1 1995 1995
CUI: C0746757
Disease: Chronic nasal congestion
Chronic nasal congestion 		disease Disease or Syndrome 1 0.010 None 1.000 1 1997 1997
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 1998 1998
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 154 14 0.110 None 1.000 1 1998 1998
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		disease Immune System Diseases Disease or Syndrome 89 4 0.010 None 1.000 1 1999 1999
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 38 42 0.030 None 1.000 3 1997 2000
CUI: C0522274
Disease: Humoral immune defect
Humoral immune defect 		group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 29 0.020 None 1.000 2 1996 2000
CUI: C1399819
Disease: Humoral immunodeficiency
Humoral immunodeficiency 		disease Immune System Diseases Disease or Syndrome 9 4 0.010 None 1.000 1 2000 2000
CUI: C0398712
Disease: Anti-polysaccharide antibody deficiency
Anti-polysaccharide antibody deficiency 		disease Disease or Syndrome 1 0.010 None 1.000 1 2001 2001
CUI: C0398689
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1
Hyper-IgM Immunodeficiency Syndrome, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 33 22 0.010 None 1.000 1 2002 2002
CUI: C1457897
Disease: Congenital hypogammaglobulinemia
Congenital hypogammaglobulinemia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2002 2002
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		group Infections; Skin and Connective Tissue Diseases Disease or Syndrome 645 11 0.010 None 1.000 1 2003 2003
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.010 None 1.000 1 2003 2003
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1096 261 0.010 None 1.000 1 2003 2003