Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040420
Disease: Tonometry
Tonometry
0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0004096
Disease: Asthma
Asthma
0.020 GeneticVariation disease BEFREE Initially, 13 EMID2 variants were significantly associated with the presence of nasal polyps in the overall asthma group (P = 0.0008-0.05, OR = 0.54-1.32 using various modes of genetic inheritance). 22217332 2012
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.020 GeneticVariation disease BEFREE To investigate the association between EMID2 and nasal polyposis, 49 single-nucleotide polymorphisms (SNPs) were genotyped in 467 asthmatics of Korean ancestry who were stratified further into 114 aspirin exacerbated respiratory disease (AERD) and 353 aspirin-tolerant asthma (ATA) subgroups. 22217332 2012
CUI: C0004096
Disease: Asthma
Asthma
0.020 Biomarker disease BEFREE These findings provide evidence that EMID2 may be a susceptible genetic factor for aspirin hypersensitivity among asthmatics in Korean population. 21086123 2011
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.020 GeneticVariation disease BEFREE In this study, the allelic associations of 49 single-nucleotide polymorphisms (SNPs) of the human EMID2 gene were evaluated from 163 AIA patients and 429 aspirin-tolerant asthma (ATA) subjects as controls in a Korean population. 21086123 2011
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps
0.010 Biomarker disease BEFREE Although association signals from 12 variants disappeared after multiple testing corrections, the relationship between EMID2_BL1_ht2 and nasal polyposis remained significant via a codominant mechanism (P corr = 0.03). 22217332 2012
CUI: C0032584
Disease: polyps
polyps
0.010 GeneticVariation phenotype BEFREE Differences in the frequency distribution of EMID2 variations between polyp-positive cases and polyp-negative controls were determined using logistic analyses. 22217332 2012
Aspirin exacerbated respiratory disease
0.010 GeneticVariation disease BEFREE To investigate the association between EMID2 and nasal polyposis, 49 single-nucleotide polymorphisms (SNPs) were genotyped in 467 asthmatics of Korean ancestry who were stratified further into 114 aspirin exacerbated respiratory disease (AERD) and 353 aspirin-tolerant asthma (ATA) subgroups. 22217332 2012