Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 161
Gene Symbol: AP2A2
AP2A2
0.010 Biomarker disease BEFREE Double-label immunofluorescence studies showed that AP2A2 protein often colocalized with neurofibrillary tangles in LOAD but was not colocalized with pTau proteinopathy in progressive supranuclear palsy, or with TDP-43 proteinopathy. 31748784 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.010 Biomarker disease BEFREE In this study, we examined the immunohistochemical distribution of BRCA1 and another DDR protein, p53-Binding Protein 1 (53BP1), in AD, Pick disease (PiD), progressive supranuclear palsy (PSP), corticobasal degeneration, and frontotemporal dementia with parkinsonism linked to chromosome 17. 31750914 2020
Entrez Id: 7158
Gene Symbol: TP53BP1
TP53BP1
0.010 Biomarker disease BEFREE On the other hand, 53BP1-immunoreactive deposits tended to be increased in the nucleus of neurons in AD and PSP compared with those in control cases. 31750914 2020
Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
0.010 Biomarker disease BEFREE However, there are no studies assessing the diagnostic yield of all TCS biomarkers in the three AP (progressive supranuclear palsy, PSP, multiple system atrophy, MSA, corticobasal degeneration, CBD). 31621617 2019
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
0.010 Biomarker disease BEFREE The IPD-MDS PSP-RS and PSP-P criteria were unable to distinguish the PSP-RS from the PSP-P phenotypes in this sample. 31665686 2019
Entrez Id: 7531
Gene Symbol: YWHAE
YWHAE
0.010 Biomarker disease BEFREE The IPD-MDS PSP-RS and PSP-P criteria were unable to distinguish the PSP-RS from the PSP-P phenotypes in this sample. 31665686 2019
Entrez Id: 3558
Gene Symbol: IL2
IL2
0.010 AlteredExpression disease BEFREE Increased prefrontal cortex interleukin-2 protein levels and shift in the peripheral T cell population in progressive supranuclear palsy patients. 31123295 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.010 Biomarker disease BEFREE The IPD-MDS PSP-RS and PSP-P criteria were unable to distinguish the PSP-RS from the PSP-P phenotypes in this sample. 31665686 2019
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
0.010 Biomarker disease BEFREE To assess the safety, tolerability, and pharmacodynamics of the microtubule stabilizer TPI-287 (abeotaxane) in Alzheimer disease (AD) or the 4-repeat tauopathies (4RT) progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). 31710340 2019
Entrez Id: 9805
Gene Symbol: SCRN1
SCRN1
0.010 Biomarker disease BEFREE SCRN1 accumulation was also examined in two cases with both Frontotemporal Lobar Degeneration (FTLD)-Tau and AD-related neuropathology, cases of Down Syndrome (DS) with AD (n = 5), one case of hereditary cerebral hemorrhage with amyloidosis - Dutch type (HCHWA-D) and other non-AD tauopathies including: primary age-related tauopathy (PART, [n = 5]), Corticobasal Degeneration (CBD, [n = 5]), Progressive Supranuclear Palsy (PSP, [n = 5]) and Pick's disease (PiD, [n = 4]). 31796108 2019
Entrez Id: 653590
Gene Symbol: GGTLC5P
GGTLC5P
0.010 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
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.010 Biomarker disease BEFREE The IPD-MDS PSP-RS and PSP-P criteria were unable to distinguish the PSP-RS from the PSP-P phenotypes in this sample. 31665686 2019
Entrez Id: 11021
Gene Symbol: RAB35
RAB35
0.010 AlteredExpression disease BEFREE Serum levels of αSyn or Rab35 were determined in serum samples from 59 sporadic PD patients, 19 progressive supranuclear palsy (PSP) patients, 20 multiple system atrophy (MSA) patients, and 60 normal controls (NC). 31591837 2019
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.010 Biomarker disease BEFREE The IPD-MDS PSP-RS and PSP-P criteria were unable to distinguish the PSP-RS from the PSP-P phenotypes in this sample. 31665686 2019
Entrez Id: 2678
Gene Symbol: GGT1
GGT1
0.010 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
Entrez Id: 729838
Gene Symbol: GGTLC4P
GGTLC4P
0.010 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
Entrez Id: 5163
Gene Symbol: PDK1
PDK1
0.010 Biomarker disease BEFREE In contrast, a specific shut off in mitogen-activated protein kinase kinase 4 (SEK1/MKK4)/stress-activated protein kinase (SAPK) axis was exclusively observed in PSP, whereas a specific phosphoinositide-dependent protein kinase 1 (PDK1) inactivation was observed in FTLD-TDP43. 30999060 2019
Entrez Id: 728441
Gene Symbol: GGT2
GGT2
0.010 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
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.010 AlteredExpression disease BEFREE Serum IGF-1 levels (mean ± standard error) were not significantly different among the patients with different neurodegenerative diseases: Parkinson's disease (PD; n = 73), 112.1 ± 5.1 ng/mL; progressive supranuclear palsy (n = 15), 102.9 ± 8.3 ng/mL; multiple system atrophy (n = 22), 103.1 ± 37.6 ng/mL; Alzheimer's disease (AD; n = 18), 102.2 ± 9.4 ng/mL; amyotrophic lateral sclerosis (n = 6), 105.5 ± 27.4 ng/mL; dementia with Lewy bodies (n = 14), 82.4 ± 7.4 ng/mL; frontotemporal dementia (n = 6), 90.0 ± 17.0 ng/mL; and corticobasal syndrome (n = 2), 118.0 ± 14.0 ng/mL. 30903695 2019
Entrez Id: 6416
Gene Symbol: MAP2K4
MAP2K4
0.010 AlteredExpression disease BEFREE In contrast, a specific shut off in mitogen-activated protein kinase kinase 4 (SEK1/MKK4)/stress-activated protein kinase (SAPK) axis was exclusively observed in PSP, whereas a specific phosphoinositide-dependent protein kinase 1 (PDK1) inactivation was observed in FTLD-TDP43. 30999060 2019
Entrez Id: 27254
Gene Symbol: CSDC2
CSDC2
0.010 Biomarker disease BEFREE We assessed 124 patients from the epidemiologic PiPPIN (Pick's Disease and Progressive Supranuclear Palsy, Prevalence and Incidence) study. 30842292 2019
Entrez Id: 6315
Gene Symbol: ATXN8OS
ATXN8OS
0.010 GeneticVariation disease BEFREE Two patients with progressive supranuclear palsy (PSP) had mutations in the ATXN8OS gene. 29916049 2019
Entrez Id: 56259
Gene Symbol: CTNNBL1
CTNNBL1
0.010 Biomarker disease BEFREE Clinically, NAP (davunetide, CP201) exhibited efficacy in prodromal Alzheimer's disease patients (Tau3R/4R tauopathy) but not in progressive supranuclear palsy (increased Tau4R tauopathy). 30865715 2019
Entrez Id: 6695
Gene Symbol: SPOCK1
SPOCK1
0.010 Biomarker disease BEFREE Disease-specific analyses revealed lower group levels of FGF-5, FGF-19 and SPOCK1 in multiple system atrophy compared with progressive supranuclear palsy and corticobasal syndrome. 30867224 2019
Entrez Id: 10724
Gene Symbol: OGA
OGA
0.010 Biomarker disease BEFREE Inhibition of O-GlcNAcase (OGA) has emerged as a promising therapeutic approach to treat tau pathology in neurodegenerative diseases such as Alzheimer's disease and progressive supranuclear palsy. 31487175 2019