Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.410 GeneticVariation group GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.410 Biomarker group CTD_human Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. 21983784 2011
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.410 GeneticVariation group BEFREE Joint analysis of 1851 IBD patients (1062 CD, 789 UC) and 1936 controls demonstrated strong association to the IL18RAP rs917997 SNP for both CD and UC (p(IBD) 1.9 x 10(-8); OR 1.35). 18439550 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.310 Biomarker disease CTD_human Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 20228799 2010
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.310 GeneticVariation disease BEFREE Joint analysis of 1851 IBD patients (1062 CD, 789 UC) and 1936 controls demonstrated strong association to the IL18RAP rs917997 SNP for both CD and UC (p(IBD) 1.9 x 10(-8); OR 1.35). 18439550 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.120 GeneticVariation disease GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.120 GeneticVariation disease GWASDB Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.120 GeneticVariation disease GWASCAT Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.120 GeneticVariation disease BEFREE Additionally, we show that T1D risk alleles residing at the PTPN22, IL27, IL18RAP and IL10 loci protect against CD. 20176734 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.120 GeneticVariation disease BEFREE Joint analysis of 1851 IBD patients (1062 CD, 789 UC) and 1936 controls demonstrated strong association to the IL18RAP rs917997 SNP for both CD and UC (p(IBD) 1.9 x 10(-8); OR 1.35). 18439550 2008
CUI: C0004096
Disease: Asthma
Asthma
0.110 GeneticVariation disease GWASDB A large-scale, consortium-based genomewide association study of asthma. 20860503 2010
CUI: C0004096
Disease: Asthma
Asthma
0.110 Biomarker disease LHGDN Association of IL1RL1, IL18R1, and IL18RAP gene cluster polymorphisms with asthma and atopy. 18774397 2008
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.100 GeneticVariation disease GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469 2017
Interleukin 1 Receptor-Like 1 Measurement
0.100 GeneticVariation phenotype GWASCAT Connecting genetic risk to disease end points through the human blood plasma proteome. 28240269 2017
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
0.100 GeneticVariation phenotype GWASDB A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. 23817569 2013
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.060 GeneticVariation disease BEFREE This meta-analysis provides robust estimates that IL18RAP rs917997 and CCR3 rs6441961 are potential risk factors for celiac disease in European populations. 26289103 2015
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.060 GeneticVariation disease BEFREE Recent genome-wide association studies have identified 1q31 (RGS1), 2q11-12 (IL18RAP), 3p21 (CCR1/CCR3/CCR2), 3q25-26 (IL12A/SCHIP1), 3q28 (LPP), 4q27 (IL2/IL21), 6q25 (TAGAP) and 12q24 (SH2B3) as susceptibility regions for coeliac disease (CD). 19693089 2010
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.060 Biomarker disease BEFREE Association of IL18RAP and CCR3 with coeliac disease in the Spanish population. 19542083 2009
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.060 AlteredExpression disease BEFREE Two putative isoforms of IL18RAP were detected and the ratios and total levels of these isoforms may contribute to the aetiology of coeliac disease. 19103669 2009
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.060 GeneticVariation disease BEFREE The effects of the IL18RAP and TAGAP alleles confer protection in type 1 diabetes and susceptibility in celiac disease. 19073967 2008
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.060 GeneticVariation disease LHGDN Newly identified genetic risk variants for celiac disease related to the immune response. 18311140 2008
Diabetes Mellitus, Insulin-Dependent
0.030 GeneticVariation disease BEFREE Autoantibodies to insulin (IAA), GAD (GADA), insulinoma-associated antigen-2 (IA-2A) and zinc transporter 8 (ZnT8A) were measured in follow-up sera, and genotyping for type 1 diabetes susceptibility genes (HLA-DR/HLA-DQ, INS variable number of tandem repeats [VNTR] and single nucleotide polymorphisms at PTPN22, PTPN2, ERBB3, IL2, SH2B3, CTLA4, IFIH1, KIAA0350 [also known as CLEC16A], CD25, IL18RAP, IL10, COBL) was performed on the DNA samples of children born to a parent with type 1 diabetes and prospectively followed from birth for up to 22 years. 23539116 2013