Gene: IKBKG ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853322
rs137853322
IKBKG
0.800 GeneticVariation UNIPROT Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. 24339369

2014
dbSNP: rs137853322
rs137853322
IKBKG
0.800 GeneticVariation UNIPROT NEMO gene mutations in Chinese patients with incontinentia pigmenti. 20434027

2010
dbSNP: rs137853322
rs137853322
IKBKG
0.800 GeneticVariation UNIPROT The zinc finger of NEMO is a functional ubiquitin-binding domain. 19033441

2009
dbSNP: rs137853322
rs137853322
IKBKG
0.800 GeneticVariation UNIPROT Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti. 17728323

2007
dbSNP: rs137853322
rs137853322
IKBKG
0.800 GeneticVariation UNIPROT Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation. 15229184

2004
dbSNP: rs137853322
rs137853322
IKBKG
0.800 GeneticVariation UNIPROT A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. 11590134

2001
dbSNP: rs137853322
rs137853322
IKBKG
0.800 GeneticVariation UNIPROT Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. 10839543

2000
dbSNP: rs137853322
rs137853322
IKBKG
G 0.800 CausalMutation CLINVAR

dbSNP: rs179363865
rs179363865
IKBKG
0.710 GeneticVariation UNIPROT Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. 24339369

2014
dbSNP: rs137853323
rs137853323
IKBKG
0.710 GeneticVariation BEFREE Mutations in IKBKG were previously reported to cause IP in humans and the homologous p.Arg62* variant has already been observed in a human IP patient. 24324710

2013
dbSNP: rs179363865
rs179363865
IKBKG
0.710 GeneticVariation UNIPROT NEMO gene mutations in Chinese patients with incontinentia pigmenti. 20434027

2010
dbSNP: rs179363865
rs179363865
IKBKG
0.710 GeneticVariation UNIPROT The zinc finger of NEMO is a functional ubiquitin-binding domain. 19033441

2009
dbSNP: rs179363865
rs179363865
IKBKG
0.710 GeneticVariation UNIPROT Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti. 17728323

2007
dbSNP: rs179363865
rs179363865
IKBKG
0.710 GeneticVariation BEFREE We report the molecular characterization of a new missense mutation of NEMO (A323P) which causes a severe form of incontinentia pigmenti (OMIM#308300), an inherited disease characterized predominantly by skin inflammation. 17728323

2007
dbSNP: rs179363865
rs179363865
IKBKG
0.710 GeneticVariation UNIPROT Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation. 15229184

2004
dbSNP: rs179363865
rs179363865
IKBKG
0.710 GeneticVariation UNIPROT A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. 11590134

2001
dbSNP: rs179363865
rs179363865
IKBKG
0.710 GeneticVariation UNIPROT Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. 10839543

2000
dbSNP: rs137853323
rs137853323
IKBKG
T 0.710 CausalMutation CLINVAR

dbSNP: rs1057520292
rs1057520292
IKBKG
0.700 GeneticVariation UNIPROT Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. 24339369

2014
dbSNP: rs1198984417
rs1198984417
IKBKG
0.700 GeneticVariation UNIPROT Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. 24339369

2014
dbSNP: rs148695964
rs148695964
IKBKG
0.700 GeneticVariation UNIPROT Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. 24339369

2014
dbSNP: rs179363895
rs179363895
IKBKG
0.700 GeneticVariation UNIPROT Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. 24339369

2014
dbSNP: rs1057520292
rs1057520292
IKBKG
0.700 GeneticVariation UNIPROT NEMO gene mutations in Chinese patients with incontinentia pigmenti. 20434027

2010
dbSNP: rs1198984417
rs1198984417
IKBKG
0.700 GeneticVariation UNIPROT NEMO gene mutations in Chinese patients with incontinentia pigmenti. 20434027

2010
dbSNP: rs148695964
rs148695964
IKBKG
0.700 GeneticVariation UNIPROT NEMO gene mutations in Chinese patients with incontinentia pigmenti. 20434027

2010