Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.380 GeneticVariation disease BEFREE Here, we investigate the prognostic significance of CCND1 and EMSY amplification in a large series of breast carcinomas and in BRCA1 and BRCA2 mutation positive breast cancers. 19636701 2010
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
0.330 GeneticVariation disease BEFREE Interestingly, the IL1RL1, HLA, IL13 and C11orf30 regions are overlapping susceptibility loci among atopic dermatitis and asthma or allergic rhinitis. 23439055 2013
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
0.330 GeneticVariation disease BEFREE Variants in a locus near chromosome 11 open reading frame 30 (C11orf30) and leucine-rich repeat containing 32 (LRRC32), which was previously associated with atopic dermatitis and eczema, were also strongly associated with both phenotypes (rs2155219; P(grass) = 9.4 × 10(-9); P(AR) = 3.8 × 10(-8)). 22036096 2011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.320 GeneticVariation group BEFREE We hypothesized that breast tumors from BRCA2 mutation carriers would be less likely than other familial breast cancers to exhibit EMSY amplification. 21327470 2011
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.130 GeneticVariation disease BEFREE The aim of this study was to screen EMSY for sequence variants and to evaluate its association with the risk of prostate cancer. 21064104 2011
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.130 GeneticVariation disease GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.130 GeneticVariation disease BEFREE Correlated intronic SNPs rs10899221 and rs72944758 formed with other EMSY variants common and rare haplotypes that were associated with increased risk (P=4.0 × 10(-4)) and decreased risk (P=0.01) of PrCa, respectively. 23830236 2013
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.130 GeneticVariation disease BEFREE A total of nine non-coding variants on 11q13.5 predispose men to prostate cancer (PrCa). rs200331695 within the EMSY intron is associated with aggressive PrCa and two high linkage disequilibrium (LD) groups of single-nucleotide polymorphisms (SNPs) in the intergenic region are associated with PrCa death. 27113481 2016
CUI: C0004096
Disease: Asthma
Asthma
0.120 GeneticVariation disease GWASCAT Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies. 31036433 2019
CUI: C0004096
Disease: Asthma
Asthma
0.120 GeneticVariation disease BEFREE Interestingly, the IL1RL1, HLA, IL13 and C11orf30 regions are overlapping susceptibility loci among atopic dermatitis and asthma or allergic rhinitis. 23439055 2013
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
0.110 GeneticVariation disease BEFREE Variants of C11orf30 were associated with the risk of childhood asthma in the Chinese population. 31812328 2019
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
0.110 GeneticVariation disease GWASCAT Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies. 31036433 2019
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis
0.110 GeneticVariation disease GWASCAT GWAS identifies four novel eosinophilic esophagitis loci. 25407941 2014
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: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.100 GeneticVariation disease BEFREE We analysed the role of germline EMSY variation in breast/ovarian cancer predisposition. 28738860 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.100 GeneticVariation disease BEFREE Amplification of the EMSY gene in sporadic breast and ovarian cancers is a poor prognostic indicator. 24582497 2014
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.100 GeneticVariation disease BEFREE We found no association between common genetic variation in EMSY and risk of breast or ovarian cancer in two large study sets of white British women. 16029503 2005
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.100 GeneticVariation disease BEFREE The EMSY (c11orf30) gene has been proposed as the possible driver of the fourth core of the 11q13 amplicon and its amplification has been associated with breast and ovarian cancers. 28824300 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.100 GeneticVariation disease BEFREE The remarkable clinical overlap between sporadic EMSY amplification and familial BRCA2 deletion implicates a BRCA2 pathway in sporadic breast and ovarian cancer. 14651845 2003
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: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.080 GeneticVariation disease BEFREE We analysed the role of germline EMSY variation in breast/ovarian cancer predisposition. 28738860 2017
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.080 GeneticVariation disease BEFREE The remarkable clinical overlap between sporadic EMSY amplification and familial BRCA2 deletion implicates a BRCA2 pathway in sporadic breast and ovarian cancer. 14651845 2003
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.080 GeneticVariation disease BEFREE We found no association between common genetic variation in EMSY and risk of breast or ovarian cancer in two large study sets of white British women. 16029503 2005
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.070 GeneticVariation disease BEFREE We found no association between common genetic variation in EMSY and risk of breast or ovarian cancer in two large study sets of white British women. 16029503 2005
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.070 GeneticVariation disease BEFREE The remarkable clinical overlap between sporadic EMSY amplification and familial BRCA2 deletion implicates a BRCA2 pathway in sporadic breast and ovarian cancer. 14651845 2003