NFKBIA, NFKB inhibitor alpha, 4792

N. diseases: 226; N. variants: 19
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: C2677481
Disease: Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1 7 0.700 strong 1.000 3 7 2003 2012
CUI: C4023533
Disease: Defective production of NFKB1-dependent cytokines
Defective production of NFKB1-dependent cytokines 		phenotype Finding 1 0.100 None 0
CUI: C2677485
Disease: Aplasia of the sweat glands
Aplasia of the sweat glands 		phenotype Finding 2 0.100 None 0
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 7 8 0.010 None 1.000 1 2018 2018
CUI: C1846006
Disease: Ectodermal dysplasia, hypohidrotic, with immune deficiency
Ectodermal dysplasia, hypohidrotic, with immune deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 10 13 0.350 None 1.000 6 2005 2017
CUI: C0264169
Disease: Saddle nose
Saddle nose 		phenotype Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding 10 1 0.100 None 0
CUI: C0007762
Disease: Cerebellar Neoplasms
Cerebellar Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 12 5 0.010 None 1.000 1 2007 2007
CUI: C0152267
Disease: Hodgkin lymphoma, lymphocyte depletion
Hodgkin lymphoma, lymphocyte depletion 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 13 0.300 None 1.000 1 2009 2009
CUI: C1266194
Disease: Lymphocyte Rich Classical Hodgkin Lymphoma
Lymphocyte Rich Classical Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 0.300 None 1.000 1 2009 2009
CUI: C1854495
Disease: Recurrent infection of the gastrointestinal tract
Recurrent infection of the gastrointestinal tract 		phenotype Finding 16 0.100 None 0
CUI: C0266037
Disease: Peg-shaped teeth
Peg-shaped teeth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 17 2 0.100 None 0
CUI: C3274515
Disease: Severe Bronchopulmonary Dysplasia
Severe Bronchopulmonary Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 18 2 0.010 None 1.000 1 2013 2013
CUI: C0152266
Disease: Mixed Cellularity Hodgkin Lymphoma
Mixed Cellularity Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 19 3 0.300 None 1.000 1 2009 2009
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		phenotype Pathologic Function 19 7 0.100 None 0
CUI: C0029607
Disease: Other emphysema
Other emphysema 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 20 0.200 None 1.000 1 2010 2010
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
Anhydrotic Ectodermal Dysplasias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 29 2 0.120 None 1.000 2 2005 2018
CUI: C0273115
Disease: Lung Injury
Lung Injury 		disease Respiratory Tract Diseases; Wounds and Injuries Injury or Poisoning 30 0.200 None 1.000 1 2009 2009
CUI: C0001306
Disease: Acute alcoholic liver disease
Acute alcoholic liver disease 		disease Digestive System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 35 0.200 None 1.000 1 2017 2017
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.100 None 0
CUI: C1333296
Disease: Activated B-cell type diffuse large B-cell lymphoma
Activated B-cell type diffuse large B-cell lymphoma 		disease Neoplastic Process 39 2 0.010 None 1.000 1 2004 2004
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 43 1 0.010 None 1.000 1 2005 2005
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 45 78 0.030 None 1.000 3 2005 2020
CUI: C1960272
Disease: Latent autoimmune diabetes mellitus in adult
Latent autoimmune diabetes mellitus in adult 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 49 12 0.010 None < 0.001 1 2007 2007
CUI: C1334968
Disease: Nodular Lymphocyte Predominant Hodgkin Lymphoma
Nodular Lymphocyte Predominant Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 51 0.310 None 1.000 2 2009 2010
CUI: C1320214
Disease: Invasive Streptococcus pneumoniae disease
Invasive Streptococcus pneumoniae disease 		disease Infections Disease or Syndrome 55 9 0.020 None 0.500 2 2 2007 2010