NFKBIA, NFKB inhibitor alpha, 4792

N. diseases: 226; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677481
Disease: Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant 		0.700 Biomarker disease CTD_human
CUI: C2677481
Disease: Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant 		0.700 CausalMutation disease CLINVAR
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
Anhydrotic Ectodermal Dysplasias 		0.120 Biomarker disease HPO
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.110 Biomarker disease HPO
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		0.100 Biomarker disease HPO
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		0.100 Biomarker disease HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 Biomarker disease HPO
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		0.100 Biomarker phenotype HPO
CUI: C0264169
Disease: Saddle nose
Saddle nose 		0.100 Biomarker phenotype HPO
CUI: C0266037
Disease: Peg-shaped teeth
Peg-shaped teeth 		0.100 Biomarker disease HPO
CUI: C1837770
Disease: Sparse hair
Sparse hair 		0.100 Biomarker phenotype HPO
CUI: C1854495
Disease: Recurrent infection of the gastrointestinal tract
Recurrent infection of the gastrointestinal tract 		0.100 Biomarker phenotype HPO
CUI: C2677485
Disease: Aplasia of the sweat glands
Aplasia of the sweat glands 		0.100 Biomarker phenotype HPO
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		0.100 Biomarker phenotype HPO
CUI: C4023533
Disease: Defective production of NFKB1-dependent cytokines
Defective production of NFKB1-dependent cytokines 		0.100 Biomarker phenotype HPO
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		0.010 Biomarker group LHGDN Herpes simplex virus disrupts NF-kappaB regulation by blocking its recruitment on the IkappaBalpha promoter and directing the factor on viral genes. 16407234 2006
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.010 AlteredExpression disease BEFREE Hyperglycaemia reduced LPS-induced mRNA expression of nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor alpha (NFKBIA), interleukin-1 alpha (IL1A) and chemokine (C-C motif) ligand 3 (CCL3), whereas during hyperinsulinaemia enhanced mRNA levels occurred in six out of eight measured inflammation-related genes, irrespective of plasma glucose levels. 18290856 2008
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 Biomarker group BEFREE Virus infection does not appear to alter the amount of RelA (p65) or NFKB1 (p50) but rather affects the capacity of I kappa B alpha to sequester RelA (p65), therefore leading to constitutive levels of RelA DNA binding activity and to increased levels of NF-kappa B-dependent gene activity. 8394446 1993
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.010 Biomarker disease BEFREE IkappaBalpha gene transfer is cytotoxic to squamous-cell lung cancer cells and sensitizes them to tumor necrosis factor-alpha-mediated cell death. 10423407 1999
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.350 Biomarker disease BEFREE IkappaBalpha gene therapy in tumor necrosis factor-alpha- and chemotherapy-mediated apoptosis of hepatocellular carcinomas. 11059688 2000
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.030 GeneticVariation disease BEFREE IkappaBalpha promoter polymorphisms in patients with rheumatoid arthritis. 17284228 2007
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 GeneticVariation disease BEFREE I kappa B alpha promoter polymorphisms in patients with systemic lupus erythematosus. 18071880 2008
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 GeneticVariation disease LHGDN I kappa B alpha promoter polymorphisms in patients with systemic lupus erythematosus. 18071880 2008
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		0.010 GeneticVariation disease BEFREE IkappaBalpha promoter polymorphisms in patients with primary Sjögren's syndrome. 18600435 2008
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 GeneticVariation disease BEFREE IkBα promoter polymorphisms in patients with ankylosing spondylitis. 19363678 2009