Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.130 GeneticVariation disease BEFREE There are no non-synonymous SNPs that correlate with this association signal and we therefore set out to assess whether its effect on OA susceptibility is mediated by alteration of MCF2L expression. 26584642 2015
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.130 Biomarker disease BEFREE MCF2L is involved in neurotrophin mediated regulation of cell motility in the peripheral nervous system, and thus potentially implicated in nociception in OA. 22178404 2012
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.130 Biomarker disease BEFREE MCF2L regulates a nerve growth factor (NGF), and treatment with a humanized monoclonal antibody against NGF is associated with reduction in pain and improvement in function for knee OA patients. 21871595 2011
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.130 GeneticVariation disease GWASCAT A variant in MCF2L is associated with osteoarthritis. 21871595 2011
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.130 GeneticVariation disease GWASDB A variant in MCF2L is associated with osteoarthritis. 21871595 2011
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: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.100 Biomarker disease BEFREE We have analyzed high-spatial-resolution STN microelectrode electrophysiology recordings of PD patients (n = 303) that underwent DBS surgery. 31758821 2020
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.100 Biomarker disease BEFREE Effects of DBS on freezing of gait and other axial signs in PD patients are unclear. 31755599 2020
CUI: C0013421
Disease: Dystonia
Dystonia
0.100 Biomarker phenotype BEFREE DBS has been trialed to treat related movement disorders, particularly dystonia. 30633810 2019
CUI: C0013421
Disease: Dystonia
Dystonia
0.100 Biomarker phenotype 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: C0013421
Disease: Dystonia
Dystonia
0.100 Biomarker phenotype BEFREE Pallidal deep-brain stimulation of the internal globus pallidus (GPi-DBS) is an effective treatment for dystonia. 30623266 2019
CUI: C0013421
Disease: Dystonia
Dystonia
0.100 Biomarker phenotype BEFREE We aimed to assess whether the thalamic ventral intermediate nucleus (Vim) might be an alternative DBS target in dystonia-choreoathetosis. 30718219 2019
CUI: C0013421
Disease: Dystonia
Dystonia
0.100 Biomarker phenotype BEFREE Peak low frequency IMC functioned as biomarker for GPi-DBS efficacy, and partly correlated with dystonia severity. 31207566 2019
CUI: C0013421
Disease: Dystonia
Dystonia
0.100 Biomarker phenotype BEFREE To objectively investigate the impact of GPi-DBS on patients with dystonia on speech fluency, intelligibility, and key aspects of hyperkinetic and hypokinetic dysarthria. 29576500 2019
CUI: C0013421
Disease: Dystonia
Dystonia
0.100 Biomarker phenotype BEFREE A dramatic and long-lasting response to DBS is characteristic of DYT-KMT2B dystonia. 31216378 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE These findings suggest that dopamine is partly involved in cost-benefit valuation, and that STN-DBS can have a beneficial effect on motivated behaviors in PD and may improve certain forms of impulsive behaviors. 30681186 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Clinical trials have established subthalamic deep-brain-stimulation (STN-DBS) as a highly effective treatment for motor symptoms of Parkinson disease (PD), but in clinical practice outcomes are variable. 30839077 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE To compare the effect of simultaneous deep brain stimulation of the subthalamic nucleus and substantia nigra pars reticulata (STN+SNr-DBS) to conventional subthalamic stimulation (STN-DBS) on sleep quality in Parkinson's disease (PD) patients. 30616868 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE The aim of this study was first to identify the influence of acute manipulation of STN-DBS in PD on the number and time pattern of word generation on different verbal fluency (VF) tasks, phonemic, switching, and cued switching, and second to determine whether cueing improved VF and if cueing effects interacted with STN-DBS effects. 31687126 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Thus, though neither drug augments DBS, we found effects of both compounds independently increase VF thresholds, informing use of our model of chronic pain in PD. 30898672 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE This plasticity of the brain helps to compensate for dysfunctional movement control and can be a promising target for compensatory treatment with neurofeedback technology, vibrotactile stimulation or DBS in order to improve the quality of life for Parkinson's disease patients. 30696912 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Stimulation challenge test after STN DBS improves satisfaction in Parkinson's disease patients. 31665685 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Application of a newly developed semiquantitative questionnaire (FST-questionnaire [Fragebogen zur Veränderung der Selbstwahrnehmung unter tiefer Hirnstimulation]: Questionnaire regarding changes in self-perception while treated with DBS) to systematically assess changes in self-perception in a single-center, cross-sectional pilot-study at the University Hospital Freiburg, Germany on 50 patients (44% male; age 50 years [range: 27-73 years]), undergoing neurostimulation (DBS, iVNS, tVNS, or eTNS) to treat Parkinson's disease or epilepsy. 30500485 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE In the present review, we summarized previous investigations focusing on STN-DBS influence on recognition of facial emotional expressions in patients suffering from PD. 31849760 2019