NFKBIA, NFKB inhibitor alpha, 4792

N. diseases: 226; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933100
rs28933100
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C2677481
Disease:
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
0.800 GeneticVariation UNIPROT A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. 18412279 2008
dbSNP: rs28933100
rs28933100
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C2677481
Disease:
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
0.800 GeneticVariation UNIPROT A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. 14523047 2003
dbSNP: rs28933100
rs28933100
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C2677481
Disease:
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
T 0.800 CausalMutation CLINVAR
dbSNP: rs28933100
rs28933100
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C2677481
Disease:
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
A 0.800 CausalMutation CLINVAR
dbSNP: rs696
rs696
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C0023508
Disease:
White Blood Cell Count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs696
rs696
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C0007222
Disease:
Cardiovascular Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs8904
rs8904
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs8904
rs8904
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C0871470
Disease:
Systolic Pressure
A 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs8904
rs8904
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C0871470
Disease:
Systolic Pressure
G 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs8904
rs8904
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C0871470
Disease:
Systolic Pressure
A 0.700 GeneticVariation GWASCAT Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. 28739976 2017
dbSNP: rs696
rs696
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C0200635
Disease:
Lymphocyte Count measurement
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs121913664
rs121913664
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C2677481
Disease:
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
T 0.700 CausalMutation CLINVAR
dbSNP: rs121913665
rs121913665
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C2677481
Disease:
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
A 0.700 CausalMutation CLINVAR
dbSNP: rs1566591073
rs1566591073
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C2677481
Disease:
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
T 0.700 CausalMutation CLINVAR
dbSNP: rs1566591073
rs1566591073
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C2677481
Disease:
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
C 0.700 CausalMutation CLINVAR
dbSNP: rs1566591076
rs1566591076
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C2677481
Disease:
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
T 0.700 CausalMutation CLINVAR
dbSNP: rs1566591082
rs1566591082
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C2677481
Disease:
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
C 0.700 CausalMutation CLINVAR
dbSNP: rs1566591086
rs1566591086
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C2677481
Disease:
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
C 0.700 CausalMutation CLINVAR
dbSNP: rs8904
rs8904
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE A case-control study including 494 ESCC patients and 494 controls was carried out to investigate the genetic susceptibility of 4 microRNA-binding site SNPs (rs712 in the binding site of KRAS to let-7, rs8904 in the binding site of NFBIA to mir-507, rs3738894 in the binding site of protein kinase C epsilon to mir-218, rs701848 in the binding site of phosphatase and tensin to mir-1304) as well as the interactions of gene-environment in the development of ESCC. 31269493 2020
dbSNP: rs2233406
rs2233406
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C0278996
Disease:
Malignant Head and Neck Neoplasm
0.010 GeneticVariation BEFREE Additionally, our results showed that no association was discovered between rs2233406 polymorphism and HNCs. 31612070 2019
dbSNP: rs2233406
rs2233406
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C3887461
Disease:
Head and Neck Carcinoma
0.010 GeneticVariation BEFREE Additionally, our results showed that no association was discovered between rs2233406 polymorphism and HNCs. 31612070 2019
dbSNP: rs696
rs696
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C0004364
Disease:
Autoimmune Diseases
0.010 GeneticVariation BEFREE Since interleukin-1 receptor-associated kinase (IRAK-1)/nuclear factor-kappa B (NF-kappa B) pathway plays an essential role in the pathogenesis of autoimmune diseases, the aim of the present study was to explore the role of polymorphisms in three genes, named IRAK1 (rs3027898), NFKBIA (rs696) and NFKB1 (-94ATTG insertion/deletion variant, - rs28362491), in PV susceptibility. 31077459 2019
dbSNP: rs2233406
rs2233406
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C0019163
Disease:
Hepatitis B
0.010 GeneticVariation BEFREE Unconditional logistic regression revealed that carriers of the TT genotype at rs2233406 had a greater risk (OR = 5.57, 95% CI = 2.14-14.52) of chronic HBV infection progression. 29093318 2018
dbSNP: rs2233406
rs2233406
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C0022660
Disease:
Kidney Failure, Acute
0.010 GeneticVariation BEFREE In conclusion, <i>NFKB1</i> rs28362491, <i>NFKBIA</i> rs2233406 and <i>NFKBIA</i> rs696 polymorphisms may serve as biomarkers for predicting risk of AKI in children. 30429237 2018
dbSNP: rs2273650
rs2273650
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
CUI: C0263746
Disease:
Osteoarthritis of the hand
0.010 GeneticVariation BEFREE Two significant SNPs, rs11096957 (OR = 1.26, P = 1.35 × 10<sup>-5</sup>) and rs2273650 (OR = 1.2, P = 1.57 × 10<sup>-3</sup>), were significantly associated with HOA risk. 29980729 2018