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: C0221354
Disease: Frontal bossing
Frontal bossing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 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: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C4023533
Disease: Defective production of NFKB1-dependent cytokines
Defective production of NFKB1-dependent cytokines 		phenotype Finding 1 0.100 None 0
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		phenotype Pathologic Function 19 7 0.100 None 0
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 1 0.100 None 0
CUI: C0264169
Disease: Saddle nose
Saddle nose 		phenotype Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding 10 1 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: C1854495
Disease: Recurrent infection of the gastrointestinal tract
Recurrent infection of the gastrointestinal tract 		phenotype Finding 16 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype Finding 112 9 0.100 None 0
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.100 None 0
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.010 None < 0.001 1 1993 1993
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.929 14 1994 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 1994 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.010 None 1.000 1 1995 1995
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 1995 1995
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.200 None 1.000 1 1996 1996
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.020 None 1.000 2 1997 2013
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 1997 1997
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 900 148 0.380 None 1.000 8 2 1999 2010
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.040 None 1.000 4 1999 2007
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.020 None 1.000 2 1999 2003
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.020 None 1.000 2 1999 2003
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.020 None 1.000 2 1999 2003
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.010 None 1.000 1 1999 1999