Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.040 Biomarker disease BEFREE Amplification of the BRCA2 pathway gene EMSY in sporadic breast cancer is related to negative outcome. 15355907 2004
CUI: C0559470
Disease: Allergy to peanuts
Allergy to peanuts
0.010 Biomarker phenotype BEFREE An SNP near integrin α6 (ITGA6) reached genome-wide significance with PA (P = 1.80 × 10<sup>-8</sup>), whereas SNPs associated with Src kinase-associated phosphoprotein 1 (SKAP1), matrix metallopeptidase 12 (MMP12)/MMP13, catenin α3 (CTNNA3), rho GTPase-activating protein 24 (ARHGAP24), angiopoietin 4 (ANGPT4), chromosome 11 open reading frame (C11orf30/EMSY), and exocyst complex component 4 (EXOC4) reached a threshold suggestive of association (P ≤ 1.49 × 10<sup>-6</sup>). 29030101 2018
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.370 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: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
0.300 Biomarker disease CTD_human Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
CUI: C4722327
Disease: PROSTATE CANCER, HEREDITARY, 1
PROSTATE CANCER, HEREDITARY, 1
0.300 Biomarker disease CTD_human 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 GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
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: C0027651
Disease: Neoplasms
Neoplasms
0.050 Biomarker group BEFREE Both CCND1 and EMSY amplifications were associated with a significantly worse outcome in ER-positive patients treated with tamoxifen only, in contrast to nonamplified tumors (P = 8.55 x 10(-4) and P = 8.35 x 10(-5), respectively). 19636701 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE By reviewing literatures published since 2003, here, we have summarized the recent advances of EMSY in cancer development. 24609898 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE By reviewing literatures published since 2003, here, we have summarized the recent advances of EMSY in cancer development. 24609898 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.370 Biomarker disease BEFREE CCND1 and EMSY, on 11q13, are frequently amplified in breast cancer. 18393977 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.320 Biomarker group CTD_human Co-amplification of CCND1 and EMSY is associated with an adverse outcome in ER-positive tamoxifen-treated breast cancers. 19636701 2010
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
0.300 Biomarker disease CTD_human Co-amplification of CCND1 and EMSY is associated with an adverse outcome in ER-positive tamoxifen-treated breast cancers. 19636701 2010
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human
0.300 Biomarker disease CTD_human Co-amplification of CCND1 and EMSY is associated with an adverse outcome in ER-positive tamoxifen-treated breast cancers. 19636701 2010
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: 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: 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: 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: 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: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.100 AlteredExpression disease BEFREE Expression of EMSY gene in sporadic ovarian cancer. 20349280 2011
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.080 AlteredExpression disease BEFREE Expression of EMSY gene in sporadic ovarian cancer. 20349280 2011
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.070 AlteredExpression disease BEFREE Expression of EMSY gene in sporadic ovarian cancer. 20349280 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 AlteredExpression disease BEFREE Finally, analysis of a TCGA colorectal cancer dataset revealed that CAB39 and EMSY are upregulated at the protein level in a significant number of CRC patients. 29720118 2018
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