SPATA18, spermatogenesis associated 18, 132671

N. diseases: 13; N. variants: 1
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 		0.310 AlteredExpression disease BEFREE The enforced expression of exogenous Mieap in breast cancer cells induced caspase-dependent apoptosis, with activation of both caspase-3/7 and caspase-9. 30290054 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 Biomarker disease CTD_human A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. 29915430 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.310 AlteredExpression disease BEFREE The enforced expression of exogenous Mieap in breast cancer cells induced caspase-dependent apoptosis, with activation of both caspase-3/7 and caspase-9. 30290054 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.310 Biomarker disease CTD_human A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. 29915430 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker disease CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		0.300 Biomarker disease CTD_human A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. 29915430 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.300 Biomarker group CTD_human A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. 29915430 2018
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		0.300 Biomarker disease CTD_human A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. 29915430 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		0.010 Biomarker disease BEFREE Immunohistochemistry revealed endogenous Mieap in the cytoplasm in 24/75 (32%) invasive ductal carcinomas (IDC), 15/27 (55.6%) cases of ductal carcinoma in situ (DCIS) and 16/18 (88.9%) fibroadenomas (FA) (IDC vs DCIS; P = 0.0389, DCIS vs FA; P = 0.0234, IDC vs FA; P < 0.0001). 30290054 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE These results indicate that p53/Mieap-regulated MQC has a critical role in tumor suppression in breast cancer, possibly in part through mitochondrial apoptotic pathway. 30290054 2018
CUI: C0206650
Disease: Fibroadenoma
Fibroadenoma 		0.010 Biomarker disease BEFREE Immunohistochemistry revealed endogenous Mieap in the cytoplasm in 24/75 (32%) invasive ductal carcinomas (IDC), 15/27 (55.6%) cases of ductal carcinoma in situ (DCIS) and 16/18 (88.9%) fibroadenomas (FA) (IDC vs DCIS; P = 0.0389, DCIS vs FA; P = 0.0234, IDC vs FA; P < 0.0001). 30290054 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 Biomarker group BEFREE Besides, a large fraction of genes associated with cell cycle processes, we identified genes implicated in cardiac calcium homeostasis (<i>PDE3B</i>), oxidative stress response (<i>FDXR</i> and SPATA18) and the etiology of cardiomyopathy (<i>SGCD</i>, <i>BBC3</i> and <i>GDF15</i>). 30247079 2018
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.010 Biomarker group LHGDN Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. 16088906 2005