Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.050 Biomarker disease BEFREE These data provide evidence for extremely rare apoptotic neuronal death in AD and PSP compatible with the progression of neuronal degeneration in these chronic diseases. 11205141 2000
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS
0.040 Biomarker disease BEFREE Primary spontaneous pneumothorax (PSP) generally occurs in young adults, whereas pediatric PSP is uncommon. 30955098 2019
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS
0.040 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: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS
0.040 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: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS
0.040 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
CUI: C0013238
Disease: Dry Eye Syndromes
Dry Eye Syndromes
0.030 Biomarker disease BEFREE In the Penn SICCA cohort, SP-1 IgM and PSP IgA autoantibodies were more prevalent in the serum of SS-related dry eye participants compared with those without SS. 31517725 2019
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.030 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: C0314719
Disease: Dryness of eye
Dryness of eye
0.030 Biomarker phenotype BEFREE In the Penn SICCA cohort, SP-1 IgM and PSP IgA autoantibodies were more prevalent in the serum of SS-related dry eye participants compared with those without SS. 31517725 2019
CUI: C0013238
Disease: Dry Eye Syndromes
Dry Eye Syndromes
0.030 Biomarker disease BEFREE To investigate the value of 3 novel autoantibodies [salivary protein 1 (SP1), carbonic anhydrase 6 (CA6), and parotid secretory protein (PSP)] in differentiating Sjögren's syndrome (SS)-related dry eye from non-SS dry eye. 29504954 2018
CUI: C0013238
Disease: Dry Eye Syndromes
Dry Eye Syndromes
0.030 Biomarker disease BEFREE To evaluate the prevalence of novel candidate Sjogren syndrome (SS) autoantibodies [salivary protein-1 (SP-1), parotid secretory protein, carbonic anhydrase 6] in the DRy Eye Assessment and Management (DREAM) cohort, a study evaluating the effectiveness of omega-3 fatty acid supplements for the treatment of dry eye. 30161055 2018
CUI: C0314719
Disease: Dryness of eye
Dryness of eye
0.030 Biomarker phenotype BEFREE To investigate the value of 3 novel autoantibodies [salivary protein 1 (SP1), carbonic anhydrase 6 (CA6), and parotid secretory protein (PSP)] in differentiating Sjögren's syndrome (SS)-related dry eye from non-SS dry eye. 29504954 2018
CUI: C0314719
Disease: Dryness of eye
Dryness of eye
0.030 Biomarker phenotype BEFREE To evaluate the prevalence of novel candidate Sjogren syndrome (SS) autoantibodies [salivary protein-1 (SP-1), parotid secretory protein, carbonic anhydrase 6] in the DRy Eye Assessment and Management (DREAM) cohort, a study evaluating the effectiveness of omega-3 fatty acid supplements for the treatment of dry eye. 30161055 2018
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.030 Biomarker disease BEFREE Atrophy colocated with cerebellar areas implicated for motor (PSP, MSA) or cognitive symptoms (FTD, ALS, PSP) in the diseases. 28501823 2017
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration
0.030 Biomarker disease BEFREE We enrolled 34 de novo PD patients and 29 patients affected by atypical parkinsonisms (Multiple System Atrophy, MSA, n = 10; Progressive Supranuclear Palsy, PSP, n = 12 and Corticobasal Degeneration, CBD, n = 7) who underwent an acute levodopa challenge. 28207803 2017
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.030 Biomarker disease BEFREE Over two dozen mutations in the gene encoding the microtubule associated protein tau cause a variety of neurodegenerative dementias known as tauopathies, including frontotemporal dementia (FTD), PSP, CBD and Pick's disease. 24086739 2013
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.030 Biomarker disease BEFREE Frontotemporal dementia (FTD) refers to a disease spectrum including the behavioral variant FTD (bvFTD), primary progressive aphasia (PPA), progressive supranuclear palsy/corticobasal degeneration syndrome (PSP/CBDS), and FTD with amyotrophic lateral sclerosis (FTD-ALS). 23254636 2013
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.030 GeneticVariation disease BEFREE Over two dozen mutations in the gene encoding the microtubule associated protein tau cause a variety of neurodegenerative dementias known as tauopathies, including frontotemporal dementia (FTD), PSP, CBD and Pick's disease. 24086739 2013
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.030 Biomarker disease BEFREE Further immunohistochemical and biochemical studies revealed that AgD is a four-repeat (4R) tauopathy similar to PSP and corticobasal degeneration (CBD), but distinct from Alzheimer's disease (AD) and Pick's disease. 15641585 2004
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration
0.030 Biomarker disease BEFREE Further immunohistochemical and biochemical studies revealed that AgD is a four-repeat (4R) tauopathy similar to PSP and corticobasal degeneration (CBD), but distinct from Alzheimer's disease (AD) and Pick's disease. 15641585 2004
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration
0.030 Biomarker disease BEFREE Some of the sporadic disorders (progressive supranuclear palsy [PSP] and corticobasal degeneration) have been referred to by molecular pathologists as primary tauopathies, implicating abnormalities of tau in their pathogenesis. 14502653 2003
CUI: C0011847
Disease: Diabetes
Diabetes
0.020 AlteredExpression disease BEFREE PSP/reg levels are elevated in cell culture and mouse models of Wolfram syndrome, a prototype of ER stress-induced diabetes. 30914711 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.020 AlteredExpression group BEFREE PSP/reg levels are elevated in cell culture and mouse models of Wolfram syndrome, a prototype of ER stress-induced diabetes. 30914711 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.020 Biomarker group 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: C0233565
Disease: Bradykinesia
Bradykinesia
0.020 Biomarker phenotype BEFREE Subsequently, the diagnosis was changed to PSP due to hypometric downward gaze, reduced blink frequency, symmetric bradykinesia, rigidity, and the absence of autonomic dysfunction. 31216016 2019
CUI: C0033377
Disease: Ptosis
Ptosis
0.020 Biomarker disease BEFREE The PSP was run by a Steering Group of three women with experience of pessary use, three experienced clinicians involved with management of prolapse, two researchers with relevant experience, a JLA adviser and a PSP leader. 29705767 2018