NFKBIE, NFKB inhibitor epsilon, 4794

N. diseases: 26; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2233434
rs2233434
Entrez Id: 4794
Gene Symbol: NFKBIE
NFKBIE
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.810 GeneticVariation BEFREE A non-synonymous single nucleotide polymorphism (nsSNP, rs2233434, Val194Ala) in the NFKBIE (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon) gene is known to be a rheumatoid arthritis (RA) susceptibility polymorphism in the Japanese RA population and could be closely associated with nuclear factor kappaB (NF-κB) activity. 26587663 2016
dbSNP: rs2233434
rs2233434
Entrez Id: 4794
Gene Symbol: NFKBIE
NFKBIE
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.810 GeneticVariation BEFREE A non-synonymous single nucleotide polymorphism (nsSNP, rs2233434, Val194Ala) in the NFKBIE (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon) gene is known to be a rheumatoid arthritis (RA) susceptibility polymorphism in the Japanese RA population and could be closely associated with nuclear factor kappaB (NF-κB) activity. 26587663 2016
dbSNP: rs2233434
rs2233434
Entrez Id: 4794
Gene Symbol: NFKBIE
NFKBIE
CUI: C0003873
Disease:
Rheumatoid Arthritis
G 0.810 GeneticVariation GWASDB Functional variants in NFKBIE and RTKN2 involved in activation of the NF-κB pathway are associated with rheumatoid arthritis in Japanese. 23028356 2012
dbSNP: rs2233434
rs2233434
Entrez Id: 4794
Gene Symbol: NFKBIE
NFKBIE
CUI: C0003873
Disease:
Rheumatoid Arthritis
G 0.810 GeneticVariation GWASCAT Functional variants in NFKBIE and RTKN2 involved in activation of the NF-κB pathway are associated with rheumatoid arthritis in Japanese. 23028356 2012
dbSNP: rs2233434
rs2233434
Entrez Id: 4794
Gene Symbol: NFKBIE
NFKBIE
CUI: C0003873
Disease:
Rheumatoid Arthritis
G 0.810 GeneticVariation GWASCAT Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. 22446963 2012
dbSNP: rs2233434
rs2233434
Entrez Id: 4794
Gene Symbol: NFKBIE
NFKBIE
CUI: C0003873
Disease:
Rheumatoid Arthritis
G 0.810 GeneticVariation GWASDB Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. 22446963 2012
dbSNP: rs2233424
rs2233424
Entrez Id: 4794
Gene Symbol: NFKBIE
NFKBIE
CUI: C0003873
Disease:
Rheumatoid Arthritis
T 0.800 GeneticVariation GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114 2019
dbSNP: rs2233424
rs2233424
Entrez Id: 4794
Gene Symbol: NFKBIE
NFKBIE
CUI: C0003873
Disease:
Rheumatoid Arthritis
T 0.800 GeneticVariation GWASCAT Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
dbSNP: rs2233424
rs2233424
Entrez Id: 4794
Gene Symbol: NFKBIE
NFKBIE
CUI: C0003873
Disease:
Rheumatoid Arthritis
T 0.800 GeneticVariation GWASDB Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
dbSNP: rs730775
rs730775
Entrez Id: 4794
Gene Symbol: NFKBIE
NFKBIE
CUI: C0200637
Disease:
Monocyte count procedure
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs730775
rs730775
Entrez Id: 4794
Gene Symbol: NFKBIE
NFKBIE
CUI: C0750880
Disease:
Monocyte count result
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2282151
rs2282151
Entrez Id: 4794;347734
Gene Symbol: NFKBIE;SLC35B2
NFKBIE;SLC35B2
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE Our findings indicate that the C allele of the novel colorectal cancer-associated variant rs2282151 is associated with increased expression levels of HSP90AB1, which is expressed higher in colorectal tumor tissues than in normal tissues. 27756247 2016
dbSNP: rs2282151
rs2282151
Entrez Id: 4794;347734
Gene Symbol: NFKBIE;SLC35B2
NFKBIE;SLC35B2
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Our findings indicate that the C allele of the novel colorectal cancer-associated variant rs2282151 is associated with increased expression levels of HSP90AB1, which is expressed higher in colorectal tumor tissues than in normal tissues. 27756247 2016
dbSNP: rs2233437
rs2233437
Entrez Id: 4794
Gene Symbol: NFKBIE
NFKBIE
CUI: C0019196
Disease:
Hepatitis C
0.010 GeneticVariation BEFREE In the validation cohort (n = 216), we replicated a significant association with HCV resolution for two SNPs in the IkBε, rs2233437 and rs730775. 24224717 2014
dbSNP: rs28362857
rs28362857
Entrez Id: 4794
Gene Symbol: NFKBIE
NFKBIE
CUI: C0019196
Disease:
Hepatitis C
0.010 GeneticVariation BEFREE Haplotype reconstruction and linkage disequilibrium analysis were performed. srs2233437, rs730775 and rs28362857 in Inhibitor of NF-kB ε (IkBε) and rs352140 in TLR9 were associated with spontaneous HCV resolution (P ≤ 0.05) in the discovery cohort (n = 308). 24224717 2014
dbSNP: rs730775
rs730775
Entrez Id: 4794
Gene Symbol: NFKBIE
NFKBIE
CUI: C0019196
Disease:
Hepatitis C
0.010 GeneticVariation BEFREE In the validation cohort (n = 216), we replicated a significant association with HCV resolution for two SNPs in the IkBε, rs2233437 and rs730775. 24224717 2014