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 GENOMICS_ENGLAND From the transcription of genes involved in ectodermal dysplasias to the understanding of associated dental anomalies. 23239958 2012
CUI: C2677481
Disease: Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant 		0.700 GeneticVariation disease UNIPROT A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. 18412279 2008
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 GENOMICS_ENGLAND A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. 18412279 2008
CUI: C2677481
Disease: Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant 		0.700 GeneticVariation disease UNIPROT A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. 14523047 2003
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: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.380 AlteredExpression disease BEFREE NFKBIA mRNA was strongly expressed in H-RS cells from HL sections, and little was detected in the reactive surrounding lymphocytes. 20193848 2010
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.380 Biomarker disease CTD_human Nominally significant associations with HL risk were detected for SNPs in NFKBIA and CYP2C9. 19223558 2009
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.380 GeneticVariation disease BEFREE Nominally significant associations with HL risk were detected for SNPs in NFKBIA and CYP2C9. 19223558 2009
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.380 GeneticVariation disease BEFREE Overall, our results suggest that germline mutations of NFKBIA are not a significant cause of familial aggregation of HL but may contribute to inherited susceptibility to HL. 15858823 2005
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.380 GeneticVariation disease BEFREE These results, in combination with recently described IkappaBalpha mutations, indicate that defective NF-kappaB inhibitors appear more frequent than previously thought and might explain the constitutive nuclear activity of NF-kappaB in a significant proportion of cHL cases. 14595753 2003
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.380 AlteredExpression disease BEFREE Taken together, although it is not clear whether normal IkappaBalpha protein was expressed in hematologic malignancies, mutations of IkappaBalpha could be rare events in these diseases, except for Hodgkin's lymphoma. 12525885 2003
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.380 GeneticVariation disease BEFREE Clonal deleterious mutations in the IkappaBalpha gene in the malignant cells in Hodgkin's lymphoma. 10637284 2000
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
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		0.360 GeneticVariation disease BEFREE Mutations of NFKBIA in biopsy specimens from Hodgkin lymphoma. 20193848 2010
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		0.360 GeneticVariation disease BEFREE Nominally significant associations with HL risk were detected for SNPs in NFKBIA and CYP2C9. 19223558 2009
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		0.360 Biomarker disease CTD_human Nominally significant associations with HL risk were detected for SNPs in NFKBIA and CYP2C9. 19223558 2009
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		0.360 GeneticVariation disease BEFREE Overall, our results suggest that germline mutations of NFKBIA are not a significant cause of familial aggregation of HL but may contribute to inherited susceptibility to HL. 15858823 2005
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		0.360 GeneticVariation disease BEFREE These results, in combination with recently described IkappaBalpha mutations, indicate that defective NF-kappaB inhibitors appear more frequent than previously thought and might explain the constitutive nuclear activity of NF-kappaB in a significant proportion of cHL cases. 14595753 2003
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		0.360 AlteredExpression disease BEFREE Taken together, although it is not clear whether normal IkappaBalpha protein was expressed in hematologic malignancies, mutations of IkappaBalpha could be rare events in these diseases, except for Hodgkin's lymphoma. 12525885 2003
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		0.360 GeneticVariation disease BEFREE Clonal deleterious mutations in the IkappaBalpha gene in the malignant cells in Hodgkin's lymphoma. 10637284 2000
CUI: C1846006
Disease: Ectodermal dysplasia, hypohidrotic, with immune deficiency
Ectodermal dysplasia, hypohidrotic, with immune deficiency 		0.350 GeneticVariation disease BEFREE Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is caused by mutations in the NF-κB essential modulator (NEMO) or NF-κB inhibitor, alpha (IKBA) genes. 28702714 2017
CUI: C1846006
Disease: Ectodermal dysplasia, hypohidrotic, with immune deficiency
Ectodermal dysplasia, hypohidrotic, with immune deficiency 		0.350 GeneticVariation disease BEFREE Germline heterozygous gain-of-function (GOF) mutations of NFKBIA, encoding IκBα, cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). 28597146 2017
CUI: C1846006
Disease: Ectodermal dysplasia, hypohidrotic, with immune deficiency
Ectodermal dysplasia, hypohidrotic, with immune deficiency 		0.350 GeneticVariation disease BEFREE This study describes a patient with AD-EDA-ID harboring a novel NFKBIA mutation who presented with mild EDA and non-infectious systemic inflammation. 23864385 2013