Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Immunodeficiency without anhidrotic ectodermal dysplasia
0.700 Biomarker disease GENOMICS_ENGLAND X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. 16818673 2006
Immunodeficiency without anhidrotic ectodermal dysplasia
0.700 GeneticVariation disease UNIPROT The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. 15100680 2004
Immunodeficiency without anhidrotic ectodermal dysplasia
0.700 GeneticVariation disease UNIPROT Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. 15356572 2004
Immunodeficiency without anhidrotic ectodermal dysplasia
0.700 Biomarker disease GENOMICS_ENGLAND A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). 11047757 2000
Immunodeficiency without anhidrotic ectodermal dysplasia
0.700 Biomarker disease CTD_human
Immunodeficiency without anhidrotic ectodermal dysplasia
0.700 Biomarker disease GENOMICS_ENGLAND
Immunodeficiency without anhidrotic ectodermal dysplasia
0.700 CausalMutation disease CLINVAR