DisGeNET - a database of gene-disease associations

Asthma, C0004096

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1034395178

LZTR1

0.700

CausalMutation

CLINVAR

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

29469822

2018

dbSNP:

rs113624356

BBS1 ; ZDHHC24

0.700

CausalMutation

CLINVAR

dbSNP:

rs113993959

CFTR

0.700

CausalMutation

CLINVAR

dbSNP:

rs1294950721

JAG1

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555549674

STAT5B

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555743003

ASXL3

0.700

CausalMutation

CLINVAR

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

27075689

2016

dbSNP:

rs201943194

DNAH11

0.700

CausalMutation

CLINVAR

dbSNP:

rs559979281

CLASP1 ; RNU4ATAC ; LOC107985942

0.700

CausalMutation

CLINVAR

dbSNP:

rs74597325

CFTR

0.700

CausalMutation

CLINVAR

dbSNP:

rs796051881

PEX5

0.700

CausalMutation

CLINVAR

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

26220973

2015

dbSNP:

rs80359473

BRCA2

0.700

CausalMutation

CLINVAR

dbSNP:

rs869312169

DOCK8

0.700

CausalMutation

CLINVAR

dbSNP:

rs7216389

GSDMB

0.900

GeneticVariation

BEFREE

This meta-analysis indicates that ORMDL3 rs7216389 may contribute to increasing susceptibility to asthma.

26125920

2015

dbSNP:

rs7216389

GSDMB

0.900

GeneticVariation

BEFREE

There were no significant associations between SNP rs7216389 and asthma.

24735179

2014

dbSNP:

rs7216389

GSDMB

0.900

GeneticVariation

BEFREE

Asthma diagnosis was associated with rs11650680 and five other SNPs including rs7216389 (P = 0.019-0.034), whereas atopy was associated only with rs11650680 (P = 0.0004).

19175592

2009

dbSNP:

rs7216389

GSDMB

0.900

GeneticVariation

GWASDB

Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma.

17611496

2007

dbSNP:

rs7216389

GSDMB

0.900

GeneticVariation

BEFREE

rs7216389 was significantly associated with the development of wheeze (hazard ratio 1.64 [1.05-2.59], P value = 0.03), asthma (hazard ratio, 1.88 [1.15-3.07], P = 0.01), and acute severe exacerbations (hazard ratio 2.66 [1.58-4.48], P value = 0.0002).

19029000

2009

dbSNP:

rs7216389

GSDMB

0.900

GeneticVariation

GWASCAT

Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma.

17611496

2007

dbSNP:

rs7216389

GSDMB

0.900

GeneticVariation

BEFREE

Stronger effect sizes were observed between GWAS SNPs and gene expression in placentas than what has been reported in other tissues, such as the correlation between asthma risk allele, rs7216389-T and Gasdermin-B (GSDMB) in placenta (r2=27%) versus lung (r2=6%).

28854703

2017

dbSNP:

rs7216389

GSDMB

0.900

GeneticVariation

BEFREE

The diagnosis of asthma was associated with rs7216389 in ORMDL3 [odds ratio (OR) 0.74 and 95% confidence interval (95% CI) 0.56-0.99] and rs3756780 in ARG1 (OR 0.67, 95% CI 0.51-0.89) and BDR with rs2749935 in ARG1.

22472724

2012

dbSNP:

rs7216389

GSDMB

0.900

GeneticVariation

BEFREE

The results of this meta-analysis firmly established that genetic variation at the rs7216389 locus, which controls the expression of the ORMDL3, may be a major, independent predisposing factor for asthma in ethnically diverse populations.

25167772

2014

dbSNP:

rs7216389

GSDMB

0.900

GeneticVariation

GWASDB

Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.

21804549

2011

dbSNP:

rs7216389

GSDMB

0.900

GeneticVariation

BEFREE

A meta-analysis of five published studies on rs7216389 in nine populations gave an odds ratio for asthma of 1.44 (95% CI, 1.35-1.54, P < 0.00001).

19133921

2009

dbSNP:

rs7216389

GSDMB

0.900

GeneticVariation

BEFREE

Our study suggests that the 17q21 rs7216389 locus variant does not substantially influence asthma risk in adulthood or susceptibility to detrimental effects of active smoking.

25331618

2015

dbSNP:

rs7216389

GSDMB

0.900

GeneticVariation

GWASDB

Genome-wide association study and admixture mapping identify different asthma-associated loci in Latinos: the Genes-environments & Admixture in Latino Americans study.

24406073

2014