Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.320 Biomarker group CTD_human mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction. 19075277 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.320 Biomarker group BEFREE mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction. 19075277 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.320 Biomarker group LHGDN TReP-132 is a novel progesterone receptor coactivator required for the inhibition of breast cancer cell growth and enhancement of differentiation by progesterone. 17015480 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.310 Biomarker disease CTD_human Relevance of breast cancer antiestrogen resistance genes in human breast cancer progression and tamoxifen resistance. 19075277 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.310 Biomarker disease CTD_human Relevance of breast cancer antiestrogen resistance genes in human breast cancer progression and tamoxifen resistance. 19075277 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.310 Biomarker disease BEFREE TReP-132 is a novel progesterone receptor coactivator required for the inhibition of breast cancer cell growth and enhancement of differentiation by progesterone. 17015480 2006
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.310 Biomarker disease BEFREE TReP-132 is a novel progesterone receptor coactivator required for the inhibition of breast cancer cell growth and enhancement of differentiation by progesterone. 17015480 2006
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
0.300 Biomarker disease CTD_human Relevance of breast cancer antiestrogen resistance genes in human breast cancer progression and tamoxifen resistance. 19075277 2009
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human
0.300 Biomarker disease CTD_human Relevance of breast cancer antiestrogen resistance genes in human breast cancer progression and tamoxifen resistance. 19075277 2009
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.100 GeneticVariation phenotype GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 Biomarker disease BEFREE We demonstrated that patches loaded with 5-FU-RAPA-PLA-NP significantly inhibited the growth of colon cancer in vitro and in vivo. 31181443 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 Biomarker disease BEFREE CQ or RAPA could significantly promote or inhibit the inhibition effect on A549 proliferation induced by antrodin C, which suggests that the autophagy played a cytoprotective role on inhibition proliferation of A549 induced by antrodin C. These results indicated that the combination of pro-apoptosis agents and anti-autophagy agents may be a useful strategy in enhancing the anticancer efficacy in non-small cell lung cancer. 31679231 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression
0.010 AlteredExpression disease BEFREE Both groups exhibited significant improvements in the RAPA measures of physical activity and depression. 31126543 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.010 AlteredExpression disease BEFREE Both groups exhibited significant improvements in the RAPA measures of physical activity and depression. 31126543 2019
CUI: C0344315
Disease: Depressed mood
Depressed mood
0.010 AlteredExpression phenotype BEFREE Both groups exhibited significant improvements in the RAPA measures of physical activity and depression. 31126543 2019
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 Biomarker disease BEFREE We demonstrated that patches loaded with 5-FU-RAPA-PLA-NP significantly inhibited the growth of colon cancer in vitro and in vivo. 31181443 2019
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 Biomarker disease BEFREE Therefore, the authors of the present study hypothesize that TRERF1 aberrations may be involved in the development of endometriosis. 29393434 2018
CUI: C0156344
Disease: Endometriosis of ovary
Endometriosis of ovary
0.010 GeneticVariation disease BEFREE To the best of our knowledge, the present study was the first to identify 2 novel, potentially 'disease‑causing' TRERF1 somatic mutations in the endometriotic lesions in 2 out of 92 patients with ovarian endometriosis; therefore, TRERF1 mutations may be involved in the pathogenesis of ovarian endometriosis. 29393434 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.010 Biomarker disease BEFREE HL-7702 cells and SK-HEP-1 cells were cultured in vitro as NAFLD cell models and treated with RAPA to induce autophagy. 30573200 2018
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians
0.010 Biomarker disease BEFREE The expression of mTOR and S6K was significantly increased in the CTX + IPA + IL-12 group compared with the control, IPA (P = 0.01; P= 0.001), and CTX + IPA (P = 0.034; P= 0.032) groups, but significantly decreased in the CTX + IPA + RAPA group (P < 0.001). 28485322 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.010 Biomarker disease BEFREE Offspring from VPA group were divided into ASD group and ASD + rapamycin (ASD + RAPA) group. 28360521 2017