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: 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: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Our results raise the interesting possibility that I kappa B alpha represents a potential tumor suppressor activity. 7936641 1994
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.020 AlteredExpression phenotype BEFREE Overexpression of I kappa B alpha antisense RNA but not I kappa B gamma antisense RNA decreased the steady state levels of I kappa B alpha protein, altered NF-kappa B DNA binding and gene activity and, most importantly, induced malignant transformation as measured by saturation density, growth in soft agar and tumorigenicity in nude mice. 7936641 1994
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 Biomarker disease BEFREE These results suggest that aberrant regulation of NF-kappa B and I kappa B-alpha contribute to the cellular defect in AT. 7777860 1995
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		0.010 Biomarker disease BEFREE Regulation of I kappa B alpha and p105 in monocytes and macrophages persistently infected with human immunodeficiency virus. 7853483 1995
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.200 Biomarker disease MGD IkappaBalpha deficiency results in a sustained NF-kappaB response and severe widespread dermatitis in mice. 8628301 1996
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.020 AlteredExpression group BEFREE The expression of I kappa B-alpha gene, which is responsive to activation by NF-kappa B, was up-regulated in PBMC and monocytes from patients, but not in mononuclear cells from healthy subjects or those with nontuberculous lung diseases. 9379002 1997
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 Biomarker disease BEFREE We found a constitutive degradation of I kappa B-alpha, the major cytoplasmic inhibitor of nuclear factor kappa B (NF-kappa B), in freshly isolated PBMC and monocytes from patients with tuberculosis. 9379002 1997
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.380 GeneticVariation disease BEFREE Mutations in the IkBa gene in Hodgkin's disease suggest a tumour suppressor role for IkappaBalpha. 10340377 1999
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.380 GeneticVariation disease BEFREE We suggest that the observed IkappaBalpha mutations contribute to constitutive NF-kappaB activity in cultured and primary HRS cells and are therefore involved in the pathogenesis of these Hodgkin's disease (HD) patients. 10556199 1999