Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.100 Biomarker disease BEFREE EMSY is located within an amplicon in sporadic breast and ovarian cancers, suggesting that its overexpression may mimic the effects of BRCA2 inactivation. 14651841 2003
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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.370 Biomarker disease BEFREE EMSY links breast cancer gene 2 to the 'Royal Family'. 15318925 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 AlteredExpression group BEFREE EMSY RNA expression levels were studied along with those of five other genes located at 11q13.5 by real-time quantitative PCR in the 39 cell lines and a subset of 65 tumors. 15355907 2004
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.100 Biomarker disease BEFREE EMSY amplification was assessed by fluorescent in-situ hybridization (FISH) in 674 ovarian cancers in a tissue microarray and correlated with histopathological subtype and tumor grade. 16236351 2006
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 Biomarker group BEFREE EMSY amplification was seen in 52/285 (18%) high grade papillary serous carcinomas, 4/27 (15%) high grade endometrioid carcinomas, 3/38 (8%) clear cell carcinomas, and 3/10 (30%) undifferentiated carcinomas. aCGH mapping of 11q13 in ovarian cancer showed that EMSY localized to the region with the highest frequency of copy number gain. 16236351 2006
CUI: C0206687
Disease: Carcinoma, Endometrioid
Carcinoma, Endometrioid 		0.010 Biomarker disease BEFREE EMSY amplification was seen in 52/285 (18%) high grade papillary serous carcinomas, 4/27 (15%) high grade endometrioid carcinomas, 3/38 (8%) clear cell carcinomas, and 3/10 (30%) undifferentiated carcinomas. aCGH mapping of 11q13 in ovarian cancer showed that EMSY localized to the region with the highest frequency of copy number gain. 16236351 2006
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		0.010 Biomarker disease BEFREE EMSY amplification was seen in 52/285 (18%) high grade papillary serous carcinomas, 4/27 (15%) high grade endometrioid carcinomas, 3/38 (8%) clear cell carcinomas, and 3/10 (30%) undifferentiated carcinomas. aCGH mapping of 11q13 in ovarian cancer showed that EMSY localized to the region with the highest frequency of copy number gain. 16236351 2006
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.070 Biomarker disease LHGDN EMSY amplification was seen in 52/285 (18%) high grade papillary serous carcinomas, 4/27 (15%) high grade endometrioid carcinomas, 3/38 (8%) clear cell carcinomas, and 3/10 (30%) undifferentiated carcinomas. aCGH mapping of 11q13 in ovarian cancer showed that EMSY localized to the region with the highest frequency of copy number gain. 16236351 2006
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.020 Biomarker disease BEFREE EMSY and CCND1 amplification in familial breast cancer: from the Ontario site of the Breast Cancer Family Registry. 21327470 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE EMSY amplification was associated with increased tumor stage only; whereas CCND1 amplification was associated with high tumor grade, ER positivity, and inversely associated with the basal-like phenotype. 21327470 2011
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.100 Biomarker disease BEFREE EMSY links the BRCA2 pathway to sporadic breast/ovarian cancer. 21409565 2011
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.080 Biomarker disease BEFREE EMSY links the BRCA2 pathway to sporadic breast/ovarian cancer. 21409565 2011
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.070 Biomarker disease BEFREE EMSY links the BRCA2 pathway to sporadic breast/ovarian cancer. 21409565 2011
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.370 Biomarker disease BEFREE EMSY is located in the breast cancer-associated chromosomal region 11q13. 28738860 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 Biomarker phenotype BEFREE EMSY and CAB39, both downstream targets of miR-451a and involved in carcinogenesis (shown in TCGA) were increased in NRs (qPCR). 28742699 2017
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: 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: 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: 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: 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.370 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: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		0.040 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: 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