Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C1846008
Disease: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC 		0.510 GeneticVariation UNIPROT Polyubiquitin binding to ABIN1 is required to prevent autoimmunity. 21606507

2011
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C1846008
Disease: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC 		0.510 GeneticVariation UNIPROT Structural basis for recognition of diubiquitins by NEMO. 19185524

2009
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C1846008
Disease: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC 		0.510 Biomarker GENOMICS_ENGLAND X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. 16818673

2006
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C1846008
Disease: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC 		0.510 GeneticVariation UNIPROT Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected]. 16547522

2006
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C1846008
Disease: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC 		0.510 GeneticVariation UNIPROT The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. 15100680

2004
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C1846008
Disease: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC 		0.510 GeneticVariation UNIPROT Sequential modification of NEMO/IKKgamma by SUMO-1 and ubiquitin mediates NF-kappaB activation by genotoxic stress. 14651848

2003
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C1846008
Disease: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC 		0.510 GeneticVariation UNIPROT Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. 12045264

2002
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C1846008
Disease: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC 		0.510 GeneticVariation UNIPROT X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. 11242109

2001
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C1846008
Disease: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC 		0.510 GeneticVariation UNIPROT Overall, the phenotype observed in XHM-ED patients shows that the putative zinc-finger domain of NEMO has a regulatory function and demonstrates the definite requirement of CD40-mediated NF-kappaB activation for B cell immunoglobulin class-switching. 11224521

2001
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C1846008
Disease: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC 		0.510 GeneticVariation BEFREE We describe mutations in the putative zinc-finger domain of NEMO that result in an X-linked primary immunodeficiency characterized by hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (XHM-ED). 11224521

2001
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C1846008
Disease: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC 		0.510 Biomarker 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
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C1846008
Disease: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC 		0.510 GeneticVariation UNIPROT 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
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C1846008
Disease: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC 		0.510 Biomarker GENOMICS_ENGLAND