Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.010 Biomarker phenotype BEFREE While their accuracy has to be carefully discussed, they can improve the understanding of DBS effects and can be of use for other DBS targets in the therapy of neurological or psychiatric disorders as well. 27981031 2017
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
0.010 Biomarker phenotype BEFREE Here, we present the comparative research of neuronal activity in subthalamic nucleus (STN) of 8 Parkinsonian patients undergoing DBS surgery in awake state and under propofol anaesthesia using different statistical approaches. 30121284 2019
CUI: C0041228
Disease: African Trypanosomiasis
African Trypanosomiasis
0.010 Biomarker disease BEFREE <i>Trypanosoma brucei</i> causes African trypanosomiasis and contains three full-length oligosaccharyltransferase (OST) genes; two of which, <i>Tb</i>STT3A and <i>Tb</i>STT3B, are expressed in the bloodstream form of the parasite. 28928222 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 Biomarker disease BEFREE However, whether DBS could improve sensory memory functions in patients with AD is not clear. 29055119 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 Biomarker disease BEFREE Further, we found neuron or glia-specific associations with AD Braak stage progression at genes such as MCF2L, ANK1, MAP2, LRRC8B, STK32C and S100B. 30045751 2018
CUI: C0178417
Disease: Anhedonia
Anhedonia
0.010 Biomarker disease BEFREE Anhedonia reduction observed during the first 30days after initiating the stimulation persisted in the assessment six months after implantation of the DBS. 28320164 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.010 Biomarker disease BEFREE The presence of MCF2L in human atherosclerotic plaque specimen lends further support to its potential role in atherosclerosis. 25898923 2016
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.010 Biomarker disease BEFREE The presence of MCF2L in human atherosclerotic plaque specimen lends further support to its potential role in atherosclerosis. 25898923 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.010 Biomarker disease BEFREE These findings are thought to be useful for understanding pathological conditions related to DBS such as cancer and non-syndromic autism in future. 31089935 2019
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer
0.010 GeneticVariation disease BEFREE Considering that Pol θ is involved in DBS repair, our results suggest that this polymorphism may contribute to the etiology of HBC, particularly in patients with bilateral breast cancer. 25409685 2014
CUI: C0236788
Disease: Bipolar II disorder
Bipolar II disorder
0.010 Biomarker disease BEFREE Long-term outcome data were collected for 28 patients (20 with major depressive disorder and seven with bipolar II disorder; one patient in the major depression subgroup was later reclassified as having bipolar II disorder) receiving SCC DBS for 4-8 years. 31581800 2019
CUI: C0005747
Disease: Blepharospasm
Blepharospasm
0.010 Biomarker disease BEFREE Interestingly, DBS for PD can cause dystonia such as blepharospasm and bilateral pallidal DBS for dystonia can result in features of parkinsonism. 31078682 2019
CUI: C4732730
Disease: Blood spots
Blood spots
0.060 Biomarker disease BEFREE A test based on viral DNA extraction from neonatal dried blood spots on Guthrie cards and its amplification by means of a nested PCR (DBS test) seems to offer the best characteristics for use in screening. 16384745 2006
CUI: C4732730
Disease: Blood spots
Blood spots
0.060 Biomarker disease BEFREE Moreover, we investigated whether dried plasma and blood spots (DPS and DBS, respectively) give comparable viral load (VL) results. 19193835 2009
CUI: C4732730
Disease: Blood spots
Blood spots
0.060 Biomarker disease BEFREE Detection of viral DNA in dried blood spots using the Guthrie card (DBS test) is a reliable and practical method of diagnosing congenital cytomegalovirus (CMV) infection. 15135749 2004
CUI: C4732730
Disease: Blood spots
Blood spots
0.060 Biomarker disease BEFREE Quantification methods were developed and validated using liquid chromatography-tandem mass spectrometry to analyze albendazole and its metabolites albendazole sulfoxide and albendazole sulfone in wet samples (plasma and blood) and blood microsamples (dried-blood spots [DBS]; Mitra). 30745388 2019
CUI: C4732730
Disease: Blood spots
Blood spots
0.060 Biomarker disease BEFREE Resultant dried blood spots may be employed for DNA extraction using a variety of technologies for nucleic acid amplification without the need for repeated cleaning of scissors or punches to prevent cross contamination of samples and results are comparable to traditional DBS. 25652763 2015
CUI: C4732730
Disease: Blood spots
Blood spots
0.060 AlteredExpression disease BEFREE Dried spots on filter paper made of whole blood (dried blood spots; DBS), plasma (dried plasma spots; DPS) or serum (dried serum spots) hold promise as an affordable and practical alternative specimen source to liquid plasma for HIV type-1 (HIV-1) viral load determination and drug resistance genotyping in the context of the rapidly expanding access to antiretroviral therapy (ART) for HIV-1-infected individuals in low- and middle-income countries. 19704164 2009
CUI: C0233565
Disease: Bradykinesia
Bradykinesia
0.010 Biomarker phenotype BEFREE Whilst changes in the frequency of subthalamic deep brain stimulation (STN-DBS) have been proposed to improve control of tremor or axial motor features in Parkinson's disease (PD), little is known about the effects of frequency changes on upper limb motor function, particularly bradykinesia. 29614696 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 Biomarker disease BEFREE The rho-specific guanine nucleotide exchange factor Dbs regulates breast cancer cell migration. 19366686 2009
CUI: C0264162
Disease: Camptocormia
Camptocormia
0.010 Biomarker disease BEFREE However, the efficacy of DBS for camptocormia varies. 28157107 2017
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
0.010 Biomarker disease BEFREE The subanalysis of patients with CMC (n = 23) and PS (n = 5) showed a 42.7% improvement in abnormal posture severity when considering the independent effect of STN-DBS (P < .001) and 30.5% when considering the combined effect of STN-DBS and levodopa (P < .001). 29285760 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.110 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.110 GeneticVariation group BEFREE In conclusion, a rare functional variant in MCF2L, leading to impaired DH function, was identified in a small pedigree with premature CVD. 25898923 2016
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 Biomarker disease BEFREE For the future, well-conducted trials as well as data collection in the international registry is of major importance to increase knowledge about DBS in CP patients, especially those implanted at a young age. 27289260 2017