Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.070 GeneticVariation disease BEFREE We analysed the role of germline EMSY variation in breast/ovarian cancer predisposition. 28738860 2017
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.070 GeneticVariation disease LHGDN 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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.070 GeneticVariation disease LHGDN We used a genetic association study design to determine if common genetic variation (frequency > or = 5%) in EMSY was associated with breast or ovarian cancer risk in the British population. 16029503 2005
CUI: C0013595
Disease: Eczema
Eczema 		0.030 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: C0013595
Disease: Eczema
Eczema 		0.030 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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.030 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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.030 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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.030 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: C0010346
Disease: Crohn Disease
Crohn Disease 		0.020 GeneticVariation disease BEFREE Three CD susceptibility loci were independently associated with surgery within 5 years (IL12B, IL23R, and C11orf30). 23665963 2013
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.020 GeneticVariation disease BEFREE Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs (in MST1, HLA-DRA, and IL-23R) and 11 of 34 CD SNPs: in IRGM, NOD2 (rs2066845), CCNY, MST1, IL23R, PTPN22, C11orf30, ZNF365, PTPN2, PSMG1, and rs1456893 were significantly associated. 21830272 2011
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.020 GeneticVariation disease BEFREE Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families. 28738860 2017
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.020 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: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.020 GeneticVariation disease BEFREE Both rs7130588_AG and rs7927894_CT genotypes in EMSY region were associated with a significantly increased risk of AR (1.75-fold and 1.50-fold) compared to the AA and CC genotypes, respectively, specific to moderate-to-severe AR. 30170133 2018
CUI: C4554344
Disease: IgE-mediated food allergy
IgE-mediated food allergy 		0.020 GeneticVariation disease BEFREE We found FLG, HLA, IL10, IL13, as well as some evidence for other variants (SPINK5, SERPINB and C11orf30) that are associated with food allergy. 30835860 2019
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 GeneticVariation disease LHGDN Absence of allelic imbalance involving EMSY, CAPN5, and PAK1 genes in papillary thyroid carcinoma. 18787380 2008
CUI: C0242788
Disease: Breast Neoplasms, Male
Breast Neoplasms, Male 		0.010 GeneticVariation group BEFREE Considering the relevant role of BRCA2 in MBC, we aimed at investigating the role of EMSY gene copy number variations in male breast tumors. 27628328 2016
CUI: C0476227
Disease: pricking of skin
pricking of skin 		0.010 GeneticVariation phenotype BEFREE We found that the 10 loci associate with sensitization to different allergens in a nonspecific manner and that one in particular, C11orf30-rs2155219, doubles the risk of poly-sensitization (specific IgE/4 allergens: OR = 1.81, 95% CI 0.80-4.24; skin prick test/4+ allergens: OR = 2.27, 95% CI 1.34-3.95). 25546184 2015
CUI: C0477474
Disease: Dermatitis and eczema
Dermatitis and eczema 		0.010 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.380 Biomarker disease CTD_human 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.380 Biomarker disease BEFREE EMSY is located in the breast cancer-associated chromosomal region 11q13. 28738860 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.380 Biomarker disease BEFREE As EMSY is located on 11q13 in proximity to CCND1, an established breast cancer oncogene, we also examined the amplification of CCND1 in the same tumor cohort. 21327470 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.380 Biomarker disease BEFREE Compared to female breast cancers, EGFR (p = 0.005) and CCND1 (p = 0.041) copy number gain was more often seen in male breast cancer, while copy number gain of EMSY (p = 0.004) and CPD (p = 0.001) and amplification in general was less frequent. 22527098 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.380 Biomarker disease BEFREE Altogether, these results suggest a pathway underlying the role of EMSY in breast cancer and uncover potential diagnostic and therapeutic targets in sporadic breast cancer. 24582497 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.380 Biomarker disease BEFREE Genetic alterations of CCND1 and EMSY in breast cancers. 18393977 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.380 Biomarker disease BEFREE EMSY links breast cancer gene 2 to the 'Royal Family'. 15318925 2004