Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 CausalMutation disease CLINVAR
Entrez Id: 5467
Gene Symbol: PPARD
PPARD
0.230 Biomarker disease MGD
Entrez Id: 1812
Gene Symbol: DRD1
DRD1
0.210 Biomarker disease MGD
Entrez Id: 7099
Gene Symbol: TLR4
TLR4
0.040 Biomarker disease BEFREE <b>Areas covered</b>: We considered available evidence implicating TLR 4 activation in the following CNS pathologies: Alzheimer's disease, Parkinson's disease, ischemic stroke, traumatic brain injury, multiple sclerosis, multiple systems atrophy, and Huntington's disease. 31580163 2019
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
0.100 AlteredExpression disease BEFREE <b>Conclusion:</b> Our study indicates a marked reduction of ligand binding to D<sub>1</sub> and D<sub>2</sub> and 5-HT<sub>2A</sub> receptors as well as loss of PDE10A enzyme in the striatum of zQ175 mice as compared with WT animals, in agreement with data obtained in clinical PET studies of patients with HD. 27856625 2017
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.020 Biomarker disease BEFREE <b>Results:</b> Results of RT-PCR indicated that after the 12-week intervention, compared to the placebo, vitamin D supplementation downregulated gene expression of interleukin (IL)-1β (<i>P</i> = 0.02), tumor necrosis factor alpha (TNF-α) (<i>P</i> = 0.02) and interferon gamma (IFN-γ) (<i>P</i> = 0.03) in PBMCs of diabetic HD patients. 29456507 2018
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.060 Biomarker disease BEFREE <sup>18</sup>F-FDG PET is capable to show early striatal dysfunction in HD even when structural imaging is normal. 31043171 2019
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 GeneticVariation disease BEFREE (1) Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by the expansion of polymorphic CAG repeats beyond 36 at exon 1 of huntingtin gene (htt). 17902043 2007
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 GeneticVariation disease LHGDN (1) Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by the expansion of polymorphic CAG repeats beyond 36 at exon 1 of huntingtin gene (htt). 17902043 2007
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 GeneticVariation disease BEFREE (1) HD pathogenesis is driven by mutant huntingtin, but before or near motor onset, sufficient CAG-driven damage occurs to permit CAG-independent processes and then lead to eventual death. 26849111 2016
Entrez Id: 8678
Gene Symbol: BECN1
BECN1
0.020 Biomarker disease BEFREE (Nature 2013;494:201-206) describe a new autophagy-inducing peptide, Tat-Beclin 1, that enhances the clearance of polyglutamine aggregates related to Huntington's disease and, interestingly, suppresses viral and bacterial infections.Savolainen et al. 24953230 2014
Entrez Id: 348
Gene Symbol: APOE
APOE
0.100 AlteredExpression disease BEFREE 1) 117 genes were differentially expressed among neonates with and without subsequent neurocognitive impairment (p<0.05 and fold change >1.5); 2) Gene ontology analysis indicated enrichment of 19 biological processes and 3 molecular functions; 3)PADOG identified 4 significantly perturbed KEGG pathways: oxidative phosphorylation, Parkinson's disease, Alzheimer's disease and Huntington's disease (q-value <0.1); 4) 48 of 90 selected differentially expressed genes were confirmed by qRT-PCR, including genes implicated in energy metabolism, neuronal signaling, vascular permeability and response to injury (e.g., up-regulation of SEPP1, APOE, DAB2, CD163, CXCL12, VWF; down-regulation of HAND1, OSR1)(p<0.05); and 5) a multi-gene model predicted 18-24 month neurocognitive impairment (using the ratios of OSR1/VWF and HAND1/VWF at birth) in a larger, independent set (sensitivity = 74%, at specificity = 83%). 25822971 2015
Entrez Id: 7450
Gene Symbol: VWF
VWF
0.020 AlteredExpression disease BEFREE 1) 117 genes were differentially expressed among neonates with and without subsequent neurocognitive impairment (p<0.05 and fold change >1.5); 2) Gene ontology analysis indicated enrichment of 19 biological processes and 3 molecular functions; 3)PADOG identified 4 significantly perturbed KEGG pathways: oxidative phosphorylation, Parkinson's disease, Alzheimer's disease and Huntington's disease (q-value <0.1); 4) 48 of 90 selected differentially expressed genes were confirmed by qRT-PCR, including genes implicated in energy metabolism, neuronal signaling, vascular permeability and response to injury (e.g., up-regulation of SEPP1, APOE, DAB2, CD163, CXCL12, VWF; down-regulation of HAND1, OSR1)(p<0.05); and 5) a multi-gene model predicted 18-24 month neurocognitive impairment (using the ratios of OSR1/VWF and HAND1/VWF at birth) in a larger, independent set (sensitivity = 74%, at specificity = 83%). 25822971 2015
Entrez Id: 9332
Gene Symbol: CD163
CD163
0.010 AlteredExpression disease BEFREE 1) 117 genes were differentially expressed among neonates with and without subsequent neurocognitive impairment (p<0.05 and fold change >1.5); 2) Gene ontology analysis indicated enrichment of 19 biological processes and 3 molecular functions; 3)PADOG identified 4 significantly perturbed KEGG pathways: oxidative phosphorylation, Parkinson's disease, Alzheimer's disease and Huntington's disease (q-value <0.1); 4) 48 of 90 selected differentially expressed genes were confirmed by qRT-PCR, including genes implicated in energy metabolism, neuronal signaling, vascular permeability and response to injury (e.g., up-regulation of SEPP1, APOE, DAB2, CD163, CXCL12, VWF; down-regulation of HAND1, OSR1)(p<0.05); and 5) a multi-gene model predicted 18-24 month neurocognitive impairment (using the ratios of OSR1/VWF and HAND1/VWF at birth) in a larger, independent set (sensitivity = 74%, at specificity = 83%). 25822971 2015
Entrez Id: 9421
Gene Symbol: HAND1
HAND1
0.010 AlteredExpression disease BEFREE 1) 117 genes were differentially expressed among neonates with and without subsequent neurocognitive impairment (p<0.05 and fold change >1.5); 2) Gene ontology analysis indicated enrichment of 19 biological processes and 3 molecular functions; 3)PADOG identified 4 significantly perturbed KEGG pathways: oxidative phosphorylation, Parkinson's disease, Alzheimer's disease and Huntington's disease (q-value <0.1); 4) 48 of 90 selected differentially expressed genes were confirmed by qRT-PCR, including genes implicated in energy metabolism, neuronal signaling, vascular permeability and response to injury (e.g., up-regulation of SEPP1, APOE, DAB2, CD163, CXCL12, VWF; down-regulation of HAND1, OSR1)(p<0.05); and 5) a multi-gene model predicted 18-24 month neurocognitive impairment (using the ratios of OSR1/VWF and HAND1/VWF at birth) in a larger, independent set (sensitivity = 74%, at specificity = 83%). 25822971 2015
Entrez Id: 1601
Gene Symbol: DAB2
DAB2
0.010 AlteredExpression disease BEFREE 1) 117 genes were differentially expressed among neonates with and without subsequent neurocognitive impairment (p<0.05 and fold change >1.5); 2) Gene ontology analysis indicated enrichment of 19 biological processes and 3 molecular functions; 3)PADOG identified 4 significantly perturbed KEGG pathways: oxidative phosphorylation, Parkinson's disease, Alzheimer's disease and Huntington's disease (q-value <0.1); 4) 48 of 90 selected differentially expressed genes were confirmed by qRT-PCR, including genes implicated in energy metabolism, neuronal signaling, vascular permeability and response to injury (e.g., up-regulation of SEPP1, APOE, DAB2, CD163, CXCL12, VWF; down-regulation of HAND1, OSR1)(p<0.05); and 5) a multi-gene model predicted 18-24 month neurocognitive impairment (using the ratios of OSR1/VWF and HAND1/VWF at birth) in a larger, independent set (sensitivity = 74%, at specificity = 83%). 25822971 2015
Entrez Id: 130497
Gene Symbol: OSR1
OSR1
0.010 AlteredExpression disease BEFREE 1) 117 genes were differentially expressed among neonates with and without subsequent neurocognitive impairment (p<0.05 and fold change >1.5); 2) Gene ontology analysis indicated enrichment of 19 biological processes and 3 molecular functions; 3)PADOG identified 4 significantly perturbed KEGG pathways: oxidative phosphorylation, Parkinson's disease, Alzheimer's disease and Huntington's disease (q-value <0.1); 4) 48 of 90 selected differentially expressed genes were confirmed by qRT-PCR, including genes implicated in energy metabolism, neuronal signaling, vascular permeability and response to injury (e.g., up-regulation of SEPP1, APOE, DAB2, CD163, CXCL12, VWF; down-regulation of HAND1, OSR1)(p<0.05); and 5) a multi-gene model predicted 18-24 month neurocognitive impairment (using the ratios of OSR1/VWF and HAND1/VWF at birth) in a larger, independent set (sensitivity = 74%, at specificity = 83%). 25822971 2015
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
0.010 AlteredExpression disease BEFREE 1) 117 genes were differentially expressed among neonates with and without subsequent neurocognitive impairment (p<0.05 and fold change >1.5); 2) Gene ontology analysis indicated enrichment of 19 biological processes and 3 molecular functions; 3)PADOG identified 4 significantly perturbed KEGG pathways: oxidative phosphorylation, Parkinson's disease, Alzheimer's disease and Huntington's disease (q-value <0.1); 4) 48 of 90 selected differentially expressed genes were confirmed by qRT-PCR, including genes implicated in energy metabolism, neuronal signaling, vascular permeability and response to injury (e.g., up-regulation of SEPP1, APOE, DAB2, CD163, CXCL12, VWF; down-regulation of HAND1, OSR1)(p<0.05); and 5) a multi-gene model predicted 18-24 month neurocognitive impairment (using the ratios of OSR1/VWF and HAND1/VWF at birth) in a larger, independent set (sensitivity = 74%, at specificity = 83%). 25822971 2015
Entrez Id: 6414
Gene Symbol: SELENOP
SELENOP
0.010 AlteredExpression disease BEFREE 1) 117 genes were differentially expressed among neonates with and without subsequent neurocognitive impairment (p<0.05 and fold change >1.5); 2) Gene ontology analysis indicated enrichment of 19 biological processes and 3 molecular functions; 3)PADOG identified 4 significantly perturbed KEGG pathways: oxidative phosphorylation, Parkinson's disease, Alzheimer's disease and Huntington's disease (q-value <0.1); 4) 48 of 90 selected differentially expressed genes were confirmed by qRT-PCR, including genes implicated in energy metabolism, neuronal signaling, vascular permeability and response to injury (e.g., up-regulation of SEPP1, APOE, DAB2, CD163, CXCL12, VWF; down-regulation of HAND1, OSR1)(p<0.05); and 5) a multi-gene model predicted 18-24 month neurocognitive impairment (using the ratios of OSR1/VWF and HAND1/VWF at birth) in a larger, independent set (sensitivity = 74%, at specificity = 83%). 25822971 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.060 AlteredExpression disease BEFREE 11 premanifest HD and 12 manifest HD subjects were enrolled.NFL and tau levels were correlated. 28241046 2017
Entrez Id: 100505887
Gene Symbol: LINC01672
LINC01672
0.040 Biomarker disease BEFREE 1H NMR spectroscopy studies of Huntington's disease: correlations with CAG repeat numbers. 9595987 1998
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
0.320 Biomarker disease BEFREE 3-NP-evoked apoptosis in HD cybrids involved cytochrome c and AIF release from mitochondria, which was associated with mitochondrial Bax translocation. 20079354 2010
Entrez Id: 5335
Gene Symbol: PLCG1
PLCG1
0.010 AlteredExpression disease BEFREE 7,8-dihydroxyflavone ameliorates cognitive and motor deficits in a Huntington's disease mouse model through specific activation of the PLCγ1 pathway. 28541476 2017
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 GeneticVariation disease BEFREE Huntington disease (HD) is an autosomal dominant neurodegenerative disorder associated with expansions of an unstable CAG trinucleotide repeat in exon 1 of the IT15 gene. 10090478 1999