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 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: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.010 Biomarker disease BEFREE We reported EMSY amplification in 34.7 % of MBCs. 27628328 2016
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast
0.010 Biomarker disease BEFREE We reported EMSY amplification in 34.7 % of MBCs. 27628328 2016
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: 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: 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: 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: 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: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.010 Biomarker disease BEFREE We conclude that 11q13.5-q14 is not imbalanced in PTC, but there is evidence suggesting that EMSY might be of relevance in PTC etiology. 18787380 2008
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: 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: 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: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
0.330 Biomarker disease CTD_human We also replicated the associations of the FLG, C11orf30, TMEM232-SLC25A46, TNFRSF6B-ZGPAT, OVOL1, ACTL9 and KIF3A-IL13 loci that were previously reported in GWAS of European and Chinese individuals and a meta-analysis of GWAS for atopic dermatitis. 23042114 2012
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: 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: 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: 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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.380 AlteredExpression disease BEFREE These results support the hypothesis that EMSY overexpression can play a role in the genesis of human breast cancer. 16145051 2005
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.370 AlteredExpression disease BEFREE These results support the hypothesis that EMSY overexpression can play a role in the genesis of human breast cancer. 16145051 2005
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.080 Biomarker disease BEFREE These findings support the role of EMSY as a key oncogene within the 11q13 amplicon in ovarian cancer. 16236351 2006
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.070 Biomarker disease BEFREE These findings support the role of EMSY as a key oncogene within the 11q13 amplicon in ovarian cancer. 16236351 2006
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 Biomarker disease BEFREE There is no report in the literature investigating the EMSY gene in lung cancer. 28824300 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 Biomarker disease BEFREE There is no report in the literature investigating the EMSY gene in lung cancer. 28824300 2017