NFKBIA, NFKB inhibitor alpha, 4792

N. diseases: 226; N. variants: 19
Disease: Ectodermal Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.030 GeneticVariation disease BEFREE A novel NFKBIA variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia. 31683054 2020
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.030 GeneticVariation disease BEFREE A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. 23708964 2013
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.030 GeneticVariation disease BEFREE A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. 18412279 2008