Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0267446
Disease: Acute gastroenteritis
Acute gastroenteritis
0.010 Biomarker disease BEFREE BCS was diagnosed during the course of an episode of acute gastroenteritis with dehydration. 22452639 2012
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.010 GeneticVariation disease BEFREE Factor V Leiden mutation is frequently found in patients with BCS and prothrombin gene variant is seen more frequently in PVT. 23123534 2012
CUI: C3826157
Disease: Hypertension in children
Hypertension in children
0.010 Biomarker disease BEFREE BCS is a rare form of portal hypertension in children. 22452639 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE We evaluated the cellular uptake of KLA fused to TCTP-PTD (hereafter called TCTP-KLA) and its effect on cancer cell viability. 21565400 2011
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.010 Biomarker phenotype BEFREE Monitoring of the minimal residual disease load with quantitative real-time PCR can be performed for NPM1 and MLL-PTD-mutated cases. 20805748 2010
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.010 Biomarker phenotype BEFREE Estrogen combined with PTD-HPV18E7(DeltaRB) enhanced cell proliferation rate, induced genomic instability, including abnormal centrosome duplication and chromosomal instability, and exhibited malignant transformation with anchorage-independent growth. 20009582 2010
CUI: C0021290
Disease: Neonatal disorder
Neonatal disorder
0.010 GeneticVariation group BEFREE Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause. 18386115 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.010 Biomarker disease BEFREE In this work we analysed the characteristics of the cell-permeable peptide TAT-PTD fused to cystatin B (CSTB) to evaluate its potential for protein therapy of Unverricht-Lundborg (UL) epilepsy. 16930946 2006
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation disease BEFREE Since also present in the stem cell subfraction, these factors seem not to be major determinants in MLL-PTD leukemogenesis. 16540167 2006
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.010 GeneticVariation disease LHGDN GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. 12215968 2002
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.020 Biomarker group BEFREE To synthesize the prevalence of CALR mutations according to the different types (i.e., Budd-Chiari syndrome [BCS] and portal vein thrombosis [PVT]) and characteristics (i.e., with and without myeloproliferative neoplasms [MPNs] and JAK2V617F mutation) of SVT patients. 29803161 2018
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.020 Biomarker group BEFREE MLL-PTD in a 13-year-old patient with blast phase myeloproliferative neoplasm: A case report. 30431598 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 GeneticVariation group BEFREE Patients with a history of PTD did not have an increased risk of later being diagnosed with female malignancies. 27614746 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
0.020 GeneticVariation group BEFREE Recently, patients with early liver failure, renal tubulopathy and encephalopathy due to the mutations in the BCS1L gene coding for a structural protein in mitochondrial complex III have been described. 23892085 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE We evaluated the cellular uptake of KLA fused to TCTP-PTD (hereafter called TCTP-KLA) and its effect on cancer cell viability. 21565400 2011
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
0.020 GeneticVariation group BEFREE Here, we report BCS1L mutations in six patients, from four unrelated families and presenting neonatal proximal tubulopathy, hepatic involvement and encephalopathy. 11528392 2001
Noninfiltrating Intraductal Carcinoma
0.030 GeneticVariation disease BEFREE Among women with DCIS, those at risk for MDD were more likely to receive BCS (adjusted odds ratio [AOR] 2.04, 95% CI 1.04-4.00, p = 0.04) or mastectomy (AOR 1.88, 95% CI 0.91-3.86, p = 0.09) compared to BCS + RT. 30406869 2019
Noninfiltrating Intraductal Carcinoma
0.030 Biomarker disease BEFREE Primary surgical lumpectomy with negative margins followed by WBI seems to be the treatment of choice in DCIS treated with BCS with respect to IBTR. 30118902 2018
Noninfiltrating Intraductal Carcinoma
0.030 Biomarker disease BEFREE Adjuvant HT use in ER+ DCIS has increased over time, with the highest rates in patients treated with BCS and radiation. 28766214 2017
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
0.030 Biomarker disease BEFREE We have established a butyrate-resistant human colon adenocarcinoma cell line (BCS-TC2.BR2) from nontumorigenic BCS-TC2 cells to analyze whether the acquisition of such phenotype confers resistance to apoptosis and stress. 15231671 2004
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
0.030 Biomarker disease BEFREE Fibronectin (FN) modulates the behavior of the poorly differentiated, human colon adenocarcinoma-derived BCS-TC2 cells by promoting adhesion through the alpha(5)beta(1)-integrin, as this effect is blocked by anti-alpha(5) and beta(1 )chain antibodies. 12138246 2002
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
0.030 Biomarker disease BEFREE A new cell line designated as BCS-TC2 was established in culture from a primary human colon adenocarcinoma. 1366654 1990
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE PTD activity in vivo shown in 1 could significantly reduce the growth of A549 xenografted tumor, without obvious loss of mice body weight. 30710171 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE After discussion among our multidisciplinary tumor board, we felt this patient to be suitable for BCS and IORT given his age, favorable tumor subtype, size, and clinically early stage breast cancer. 28597470 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE Combinatorial targeting of EGF-Receptor (EGFR) and Akt2, but not Ak1 or Akt3, by PTD-DRBD delivered siRNAs synergized to induce tumor cell specific apoptosis. 19901546 2009