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: 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