Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013146
Disease: Drug abuse
Drug abuse
0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013170
Disease: Drug habituation
Drug habituation
0.300 Biomarker phenotype CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013222
Disease: Drug Use Disorders
Drug Use Disorders
0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
Organic Mental Disorders, Substance-Induced
0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0038580
Disease: Substance Dependence
Substance Dependence
0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders
0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0236969
Disease: Substance-Related Disorders
Substance-Related Disorders
0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem
0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C1510472
Disease: Drug Dependence
Drug Dependence
0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C4316881
Disease: Prescription Drug Abuse
Prescription Drug Abuse
0.300 Biomarker phenotype CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.100 Biomarker disease BEFREE Primary spontaneous pneumothorax (PSP) generally occurs in young adults, whereas pediatric PSP is uncommon. 30955098 2019
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.100 GeneticVariation disease BEFREE <b>Objectives:</b> The present study is geared to learning about the patterns of tau seeding and cells involved following unilateral inoculation in the corpus callosum of homogenates from sporadic Alzheimer's disease (AD), primary age-related tauopathy (PART: neuronal 4Rtau and 3Rtau), pure aging-related tau astrogliopathy (ARTAG: astroglial 4Rtau with thorn-shaped astrocytes TSAs), globular glial tauopathy (GGT: 4Rtau with neuronal tau and specific tau inclusions in astrocytes and oligodendrocytes, GAIs and GOIs, respectively), progressive supranuclear palsy (PSP: 4Rtau with neuronal inclusions, tufted astrocytes and coiled bodies), Pick's disease (PiD: 3Rtau with characteristic Pick bodies in neurons and tau containing fibrillar astrocytes), and frontotemporal lobar degeneration linked to P301L mutation (FTLD-P301L: 4Rtau familial tauopathy). 31191295 2019
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.100 Biomarker disease BEFREE The overall sensitivity of the International Parkinson and Movement Disorder Society criteria was 87.9%, compared with 45.5% for the National Institutes of Neurological Disease and Society for Progressive Supranuclear Palsy criteria, whereas the specificity of the International Parkinson and Movement Disorder Society probable PSP criteria was 85.7%, compared with 90.5% for the National Institutes of Neurological Disease and Society for Progressive Supranuclear Palsy. 30726566 2019
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.100 Biomarker disease BEFREE We present a series of patients with vertical supranuclear gaze palsy, postural instability with falls, and progressive spasticity, who mimic Progressive Supranuclear Palsy - Richardson's syndrome (PSP-R) but have no parkinsonism, and in whom dopamine transporter imaging is normal. 29801913 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.100 Biomarker disease BEFREE Differentiating clinically progressive supranuclear palsy-parkinsonism (PSP-P) from Parkinson's disease (PD) may be challenging, especially in the absence of vertical supranuclear gaze palsy (VSGP). 30068492 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.100 GeneticVariation disease BEFREE This is, to best of our knowledge, the first report describing a pathologically confirmed progressive supranuclear palsy - corticobasal syndrome (PSP-CBS) variant case in a <i>FMR1</i> premutation carrier. 30158953 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.100 Biomarker disease BEFREE Further studies on earlier stage non-demented PSP patients are required to ascertain whether stereotypies are characteristic of PSP in general or are confined to PSP-RS, and whether they may be used to suggest a PSP diagnosis early in disease course. 30399478 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.100 Biomarker disease BEFREE The differentiation of progressive supranuclear palsy-parkinsonism (PSP-P) from Parkinson's disease (PD) remains a major clinical challenge. 29463454 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.100 GeneticVariation disease BEFREE We aimed to assess whether a combined analysis of dopamine transporter (DAT)- and perfusion-SPECT images (or either) could: (1) distinguish atypical parkinsonian syndromes (APS) from Lewy body diseases (LBD; majority Parkinson disease [PD]), and (2) differentiate among APS subgroups (progressive supranuclear palsy [PSP], corticobasal syndrome [CBS], and multiple system atrophy [MSA]). 29157745 2018
CUI: C0406208
Disease: Suntan
Suntan
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure. 29739929 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.100 GeneticVariation disease BEFREE Progressive supranuclear palsy syndrome (PSP-S) results from neurodegeneration within a network of brainstem, subcortical, frontal and parietal cortical brain regions. 28951832 2017
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.100 GeneticVariation disease BEFREE Clinical diagnostic criteria, published in 1996 by the National Institute of Neurological Disorders and Stroke/Society for PSP, have excellent specificity, but their sensitivity is limited for variant PSP syndromes with presentations other than Richardson's syndrome. 28467028 2017
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.100 GeneticVariation disease BEFREE To elucidate different patterns of progression of midbrain atrophy in patients with Richardson's syndrome (RS), progressive supranuclear palsy-parkinsonism (PSP-P), and Parkinson's disease (PD) using magnetic resonance imaging (MRI)-based visual rating indexes. 27614955 2017
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.100 Biomarker disease BEFREE We define a five-level theoretical construct for the utility of neuroimaging biomarkers in PSP, with level 1 representing group-level findings, level 2 representing biomarkers with demonstrable individual-level diagnostic utility, level 3 representing biomarkers for early disease, level 4 representing surrogate biomarkers of PSP pathology, and level 5 representing definitive PSP biomarkers of PSP pathology. 28500751 2017
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.100 GeneticVariation disease BEFREE Rs186977284 was also present in 2.7% of a large cohort of autopsy-confirmed PSP patients (N = 566) and only 0.9% of an additional control series (P = 0.034, OR = 3.08), extending the association to PSP. 24121548 2014