DisGeNET - a database of gene-disease associations

NFKBIA, NFKB inhibitor alpha, 4792

N. diseases: 226; N. variants: 19

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs28933100

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C2677481
Disease:

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant

0.800

CausalMutation

CLINVAR

dbSNP:

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

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

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C2677481
Disease:

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant

0.800

CausalMutation

CLINVAR

dbSNP:

rs121913664

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C2677481
Disease:

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant

0.700

CausalMutation

CLINVAR

dbSNP:

rs121913665

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C2677481
Disease:

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant

0.700

CausalMutation

CLINVAR

dbSNP:

rs1566591073

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C2677481
Disease:

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant

0.700

CausalMutation

CLINVAR

dbSNP:

rs1566591073

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C2677481
Disease:

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant

0.700

CausalMutation

CLINVAR

dbSNP:

rs1566591076

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C2677481
Disease:

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant

0.700

CausalMutation

CLINVAR

dbSNP:

rs1566591082

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C2677481
Disease:

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant

0.700

CausalMutation

CLINVAR

dbSNP:

rs1566591086

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C2677481
Disease:

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant

0.700

CausalMutation

CLINVAR

dbSNP:

rs696

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C0200635
Disease:

Lymphocyte Count measurement

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

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

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

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

27841878

2017

dbSNP:

rs8904

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C0871470
Disease:

Systolic Pressure

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:

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

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

30578418

2019

dbSNP:

rs1050851

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C0022660
Disease:

Kidney Failure, Acute

0.010

GeneticVariation

BEFREE

In Caucasian patients, we identified associations between two SNPs and the incidence of AKI (stage 1 and above): rs1050851 and rs2233417; both are found within the gene for nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA).

26477820

2015

dbSNP:

rs17103265

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C0699791
Disease:

Stomach Carcinoma

0.010

GeneticVariation

BEFREE

IκBα rs17103265 deletion homozygote is a novel genetic risk factor for gastric carcinogenesis, especially for the development of certain subtypes of gastric cancer in southern Chinese population.

21376060

2011

dbSNP:

rs17103265

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C0024623
Disease:

Malignant neoplasm of stomach

0.010

GeneticVariation

BEFREE

IκBα rs17103265 deletion homozygote is a novel genetic risk factor for gastric carcinogenesis, especially for the development of certain subtypes of gastric cancer in southern Chinese population.

21376060

2011

dbSNP:

rs17103265

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C0596263
Disease:

Carcinogenesis

0.010

GeneticVariation

BEFREE

IκBα rs17103265 deletion homozygote is a novel genetic risk factor for gastric carcinogenesis, especially for the development of certain subtypes of gastric cancer in southern Chinese population.

21376060

2011

dbSNP:

rs1957106

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C0017636
Disease:

Glioblastoma

0.010

GeneticVariation

BEFREE

The SNP rs1957106 CT and TT genotypes were found to be associated with lower NFKBIA protein levels and a poor prognosis of pateints with glioblastoma.

25215581

2014

dbSNP:

rs1957106

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C1621958
Disease:

Glioblastoma Multiforme

0.010

GeneticVariation

BEFREE

The SNP rs1957106 CT and TT genotypes were found to be associated with lower NFKBIA protein levels and a poor prognosis of pateints with glioblastoma.

25215581

2014

dbSNP:

rs1957106

Entrez Id:	4792
Gene Symbol:	NFKBIA

NFKBIA

CUI:	C0278878
Disease:

Adult Glioblastoma

0.010

GeneticVariation

BEFREE

The SNP rs1957106 CT and TT genotypes were found to be associated with lower NFKBIA protein levels and a poor prognosis of pateints with glioblastoma.

25215581

2014