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: C0398712
Disease: Anti-polysaccharide antibody deficiency
Anti-polysaccharide antibody deficiency 		disease Disease or Syndrome 1 0.010 None 1.000 1 2001 2001
CUI: C0472814
Disease: Autosomal agammaglobulinemia with absent B-cells
Autosomal agammaglobulinemia with absent B-cells 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2004 2004
CUI: C0746757
Disease: Chronic nasal congestion
Chronic nasal congestion 		disease Disease or Syndrome 1 0.010 None 1.000 1 1997 1997
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: C3203655
Disease: Autoimmune aplastic anaemia
Autoimmune aplastic anaemia 		disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C1843995
Disease: Enteroviral hepatitis
Enteroviral hepatitis 		disease Disease or Syndrome 1 0.100 None 0
CUI: C3806660
Disease: Enteroviral dermatomyositis syndrome
Enteroviral dermatomyositis syndrome 		disease Disease or Syndrome 1 0.100 None 0
CUI: C4087393
Disease: Marginal zone lymphoma refractory
Marginal zone lymphoma refractory 		disease Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C4727151
Disease: Recurrent Hemophagocytic Lymphohistiocytosis
Recurrent Hemophagocytic Lymphohistiocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 2 18 0.100 None 0 17
CUI: C0008684
Disease: Chronic gingivitis
Chronic gingivitis 		disease Infections; Stomatognathic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2006 2006
CUI: C0270710
Disease: Bing-Neel syndrome
Bing-Neel syndrome 		disease Neoplasms; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2019 2019
CUI: C1405308
Disease: Vaccine associated paralytic poliomyelitis
Vaccine associated paralytic poliomyelitis 		disease Infections; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2008 2008
CUI: C0241932
Disease: X-linked hypogammaglobulinemia
X-linked hypogammaglobulinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2005 2005
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: C0855138
Disease: Mantle cell lymphoma refractory
Mantle cell lymphoma refractory 		disease Neoplastic Process 6 0.030 None 1.000 3 2016 2019
CUI: C1863715
Disease: Severe B lymphocytopenia
Severe B lymphocytopenia 		phenotype Finding 6 1 0.100 None 0 1
CUI: C4021957
Disease: Recurrent cutaneous abscess formation
Recurrent cutaneous abscess formation 		phenotype Finding 6 0.100 None 0
CUI: C0865214
Disease: Autosomal recessive agammaglobulinemia
Autosomal recessive agammaglobulinemia 		disease Disease or Syndrome 7 0.020 None 1.000 2 2015 2020
CUI: C0034212
Disease: Pyoderma
Pyoderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 7 0.100 None 0
CUI: C0745242
Disease: Immunoglobulin deficiency
Immunoglobulin deficiency 		disease Immune System Diseases Disease or Syndrome 8 0.010 None 1.000 1 1995 1995
CUI: C3888789
Disease: Pancreatic toxicity
Pancreatic toxicity 		disease Disease or Syndrome 8 2 0.010 None 1.000 1 2017 2017
CUI: C0014534
Disease: Epididymitis
Epididymitis 		disease Male Urogenital Diseases Disease or Syndrome 8 0.100 None 0
CUI: C1399819
Disease: Humoral immunodeficiency
Humoral immunodeficiency 		disease Immune System Diseases Disease or Syndrome 9 4 0.010 None 1.000 1 2000 2000