Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE BCS-TC2 cells are not tumorigenic in vivo, but are able to form tumors when coinjected with FN in nude mice. 12138246 2002
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.060 Biomarker disease BEFREE Cytogenetic and molecular genetic characterization of KMT2A-PTD positive acute myeloid leukemia in comparison to KMT2A-Rearranged acute myeloid leukemia. 31698332 2020
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency
0.060 GeneticVariation disease BEFREE BCS1L mutations are also linked to an undefined complex III deficiency, a heterogeneous condition generally involving low birth weight, renal and hepatic pathologies, hypotonia, and developmental delays. 30582773 2019
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency
0.060 GeneticVariation disease BEFREE Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model. 28427446 2017
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency
0.060 Biomarker disease BEFREE Defects in five further factors for assembly (TTC19, UQCC2, and UQCC3) or iron-sulphur cluster loading (BCS1L and LYRM7) cause complex III deficiency. 28804536 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.060 GeneticVariation disease BEFREE 90.8% of MLL-PTD AML patients had at least one additional gene mutation. 26375248 2015
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.060 Biomarker disease BEFREE The significant correlation between the expression of MDR-1, MRP-1, and BCRP mRNA and FLT3-ITD or MLL-PTD in AML patients requires further investigation. 24030729 2014
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency
0.060 GeneticVariation disease BEFREE BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency. 22277166 2012
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.060 Biomarker disease BEFREE Within the majority of MLL-PTD AML is a mechanism in which DNA hypermethylation silences a TSG that, together with MLL-PTD, can contribute further to aberrant chromatin remodeling and altered gene expression. 18566324 2008
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.060 Biomarker disease BEFREE FLT3-LM and MLL-PTD were more frequent in AML relapse than in de novo AML or s-AML (p<0.0001). 17550846 2007
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency
0.060 GeneticVariation disease BEFREE BCS1L mutations cause disease phenotypes ranging from highly restricted pili torti and sensorineural hearing loss (the Björnstad syndrome) to profound multisystem organ failure (complex III deficiency and the GRACILE syndrome). 17314340 2007
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.060 Biomarker disease BEFREE This review summarises clinical studies on MLL-PTD positive AML and recent experimental findings on the putative leukaemogenic role of MLL-PTD. 16965385 2006
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency
0.060 GeneticVariation disease BEFREE No significant deficiency of complex III activity of respiratory chain has been found, although we recently showed that the underlying genetic cause is a missense mutation (S78G) in the BCS1L gene and other mutations in that gene have been associated with complex III deficiency. 12547234 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.090 Biomarker disease BEFREE Fifty-six patients with breast cancer were enrolled for BCS through local or general anesthesia. 31662515 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.090 Biomarker disease BEFREE Fifty-six patients with breast cancer were enrolled for BCS through local or general anesthesia. 31662515 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.090 Biomarker disease BEFREE There are no differences in oncologic outcomes between BCS+RT and MRM-alone groups under the AT chemotherapy regimens for pN1 breast cancer. 30384580 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.090 Biomarker disease BEFREE The present studies, successfully provide a workable nanomedicine, loaded with a BCS class-IV drug, for improved efficacy and safety in breast cancer. 30986424 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.090 Biomarker disease BEFREE In this study, we aimed to compare the long-term results between RT after BCS and postmastectomy RT in stage T1-2N1M0 breast cancer. 31372049 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.090 Biomarker disease BEFREE A single institution chart review evaluated all patients undergoing BCS for treatment of breast cancer. 30049436 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.090 Biomarker disease BEFREE There are no differences in oncologic outcomes between BCS+RT and MRM-alone groups under the AT chemotherapy regimens for pN1 breast cancer. 30384580 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.090 Biomarker disease BEFREE The present studies, successfully provide a workable nanomedicine, loaded with a BCS class-IV drug, for improved efficacy and safety in breast cancer. 30986424 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.090 Biomarker disease BEFREE In this study, we aimed to compare the long-term results between RT after BCS and postmastectomy RT in stage T1-2N1M0 breast cancer. 31372049 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.090 Biomarker disease BEFREE A single institution chart review evaluated all patients undergoing BCS for treatment of breast cancer. 30049436 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.090 Biomarker disease BEFREE Since overall prognosis and systemic therapy recommendations for MBC are similar to breast cancer in women, we describe the first case of MBC treated with BCS and IORT. 28597470 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.090 Biomarker disease BEFREE Since overall prognosis and systemic therapy recommendations for MBC are similar to breast cancer in women, we describe the first case of MBC treated with BCS and IORT. 28597470 2018