Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 GeneticVariation disease GWASCAT Genetic polymorphisms associated with pancreatic cancer survival: a genome-wide association study. 28470677 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 GeneticVariation disease GWASCAT A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303. 22142827 2012
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 GeneticVariation disease GWASDB A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303. 22142827 2012
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.070 GeneticVariation disease BEFREE In the WHO 2008 criteria, pre-PMF was not defined as a subgroup of PMF; therefore, affected patients were at a higher risk of misdiagnosis with ET. 30977935 2019
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.070 Biomarker disease BEFREE Retrospective studies showed that survival of patients with pre-PMF is worse than that of ET and better than overt PMF. 30405096 2018
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.070 GeneticVariation disease BEFREE There were 83 patients diagnosable only by the BCSH criteria (BCSH-only-ET), of which under the WHO classification, 69 patients fell under the category of MPN, unclassifiable (MPN-u), 12 patients were PMF, prefibrotic/early stage (pre-PMF), and 2 patients were polycythemia vera. 29405428 2018
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.070 Biomarker disease BEFREE In early-PMF compared to ET, the 10-year mortality rates (6.7% and 4.3%, P = .73), leukemic transformation rates (1.4% and 1.2%, P = .45), and thrombosis rates (16.7% and 12.2%, P = .12) were comparable. 28509339 2018
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.070 Biomarker disease BEFREE Furthermore, PT-INR was higher in ET and PMF mutated patients. 27976991 2017
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.070 Biomarker disease BEFREE Whole blood gene expression profiling was performed in 17 and 9 patients diagnosed with ET and PMF, respectively. 27579896 2016
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.070 Biomarker disease BEFREE Overall, 217 patients with ET (number 197) and early-PMF (number 20) were included in the analysis.Median follow-up time was 10.2 years. 25801912 2015
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.060 GeneticVariation disease BEFREE We aimed to investigate AURKA, BORA and PLK1 mRNA expression in unfractionated bone-marrow aspirates of 43 patients with myelofibrosis (28 primary-/PMF, 15 secondary-myelofibrosis/SMF) and 12 controls and to assess their clinical correlations. 31837568 2020
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.060 GeneticVariation disease BEFREE Using these data, differentially expressed genes (DEGs) were identified between PMF and normal conditions using significance analysis of microarrays, and seed genes were determined based on the intersection of known pathogenic genes and the PMF gene expression profile. 29115418 2018
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.060 Biomarker disease BEFREE Retrospective studies showed that survival of patients with pre-PMF is worse than that of ET and better than overt PMF. 30405096 2018
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.060 GeneticVariation disease BEFREE In total, 199 patients with MPN (54 primary myelofibrosis [PMF], 79 essential thrombocythemia [ET], 58 polycythemia vera [PV], and eight MPN-unclassifiable [MPN-U]) and 4 patients with acute panmyelosis with myelofibrosis (APMF) were retrospectively subjected to Sanger sequencing for CALR, JAK2, and MPL. 25873496 2015
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.060 Biomarker disease BEFREE We have identified a simple 5-gene signature, which is uniquely and highly significantly deregulated in patients in transitional stages of ET and PV towards myelofibrosis and in patients with PMF only. 24454890 2014
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.060 GeneticVariation disease BEFREE Physicians treating patients with the classic Philadelphia-negative myeloproliferative neoplasms (Ph-negative MPNs) (polycythemia vera [PV], essential thrombocythemia [ET] and primary myelofibrosis [PMF]) traditionally had few therapeutic drugs available. 21095048 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE Here, we discuss known and potential functions of tumor suppressor genes during tissue regeneration, focusing on the evolutionarily conserved tumor suppressors pRb1, p53, Pten and Hippo. 23715544 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE Additionally, we showed that the tumour suppressor pRb1 (retinoblastoma protein) is more sensitive to epigenetic-based anti-cancer stimuli than p53. 21635225 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE Several studies conducted so far have assessed the deregulation of the pRb1-pathway components in various human tumors and cell-lines, provided these pathway alterations play an obligatory role in tumorigenesis. 14670612 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE Enterocyte differentiation is compatible with SV40 large T expression and loss of p53 function in human colonic Caco-2 cells. Status of the pRb1 and pRb2 tumor suppressor gene products. 9136893 1997
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.030 GeneticVariation disease BEFREE We aimed to investigate AURKA, BORA and PLK1 mRNA expression in unfractionated bone-marrow aspirates of 43 patients with myelofibrosis (28 primary-/PMF, 15 secondary-myelofibrosis/SMF) and 12 controls and to assess their clinical correlations. 31837568 2020
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.030 Biomarker disease BEFREE This prospective cross-sectional study involves 36 MS patients (21 females, 15 males; age range 22-63 years; 15 relapsing-remitting MS - RRMS; 21 primary or secondary progressive MS - PMS) and 36 age-matched HC (20 females, 16 males); age range 21-61 years). 31176293 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.030 AlteredExpression disease BEFREE GBSI provided similar rates of atrophy, but reduced measurement variability compared to CSA in all MS subtypes (CIS: -0.95 ± 2.11% vs -1.19 ± 3.67%; RRMS: -1.74 ± 2.57% vs -1.74 ± 4.02%; PMS: -2.29 ± 2.40% vs -1.29 ± 3.20%) and healthy controls (0.02 ± 2.39% vs -0.56 ± 3.77%). 31385358 2019
CUI: C0085624
Disease: Burning sensation
Burning sensation
0.030 Biomarker phenotype BEFREE According to the positive matrix factorization (PMF) receptor model, primary sources for every four-year period were identified as oil burning, biomass burning, and vehicular emissions from gasoline and diesel-powered engines. 30716635 2019
CUI: C0085624
Disease: Burning sensation
Burning sensation
0.030 Biomarker phenotype BEFREE According to the source apportionment by diagnostic ratios and PMF model, coal combustion and traffic emission were estimated to be the main sources of PAHs in Dalian, followed by petroleum release and biomass burning. 30388687 2019