Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 406952
Gene Symbol: MIR17
MIR17
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 Biomarker BEFREE Taken together, data indicate that miR-17, -20a, -26a/b, -101, -106b and -199b might be interesting targets to mitigate Tau and Aβ pathology in DS. 31605772

2020

Entrez Id: 55556
Gene Symbol: ENOSF1
ENOSF1
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 Biomarker BEFREE Here, the effects of adult familiarity and nature of interaction on social anxiety and social motivation were investigated in individuals with fragile X (FXS; n = 20), Cornelia de Lange (CdLS; n = 20) and Rubinstein-Taybi (RTS; n = 20) syndromes, compared to individuals with Down syndrome (DS; n = 20). 31541420

2020

Entrez Id: 28954
Gene Symbol: REM1
REM1
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 Biomarker BEFREE REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample. 31378642

2020

Entrez Id: 23452
Gene Symbol: ANGPTL2
ANGPTL2
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 AlteredExpression BEFREE Fluorescent deconvolution tomography was used to determine postsynaptic PAK3 and Arp2 levels for large numbers of excitatory synapses in the parietal cortex of individuals with DS plus AD pathology (DS + AD) or AD alone relative to age-matched controls. 31410926

2020

Entrez Id: 10097
Gene Symbol: ACTR2
ACTR2
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 AlteredExpression BEFREE Fluorescent deconvolution tomography was used to determine postsynaptic PAK3 and Arp2 levels for large numbers of excitatory synapses in the parietal cortex of individuals with DS plus AD pathology (DS + AD) or AD alone relative to age-matched controls. 31410926

2020

Entrez Id: 406978
Gene Symbol: MIR199B
MIR199B
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 AlteredExpression BEFREE DYRK1A mRNA also increased in the hippocampus of 5 months old DS mice and it is associated with decreased levels of miR-199b. 31605772

2020

Entrez Id: 57379
Gene Symbol: AICDA
AICDA
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 AlteredExpression BEFREE Fluorescent deconvolution tomography was used to determine postsynaptic PAK3 and Arp2 levels for large numbers of excitatory synapses in the parietal cortex of individuals with DS plus AD pathology (DS + AD) or AD alone relative to age-matched controls. 31410926

2020

Entrez Id: 5063
Gene Symbol: PAK3
PAK3
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 AlteredExpression BEFREE Though numbers of excitatory synapses were not different between groups, synaptic PAK3 levels were greatly reduced in DS + AD and AD individuals vs. controls. 31410926

2020

Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 Biomarker BEFREE Here, the effects of adult familiarity and nature of interaction on social anxiety and social motivation were investigated in individuals with fragile X (FXS; n = 20), Cornelia de Lange (CdLS; n = 20) and Rubinstein-Taybi (RTS; n = 20) syndromes, compared to individuals with Down syndrome (DS; n = 20). 31541420

2020

Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 Biomarker BEFREE We utilized male Ts65Dn mice (a mouse model for DS), and male normosomic (NS) controls to examine the effects of inhibitory DREADDs delivered via an AAV vector under translational control of the synthetic PRSx8, dopamine β hydroxylase (DβH) promoter. 31678403

2020

Entrez Id: 406937
Gene Symbol: MIR145
MIR145
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 Biomarker BEFREE An integrated analysis of miR and mRNA expression in the thymus in Down syndrome is reported in the present study. miR‑30c, miR‑145, miR‑183 and their targets may serve important roles in the pathogenesis and development of complications in Down syndrome. 31257513

2019

Entrez Id: 4544
Gene Symbol: MTNR1B
MTNR1B
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 AlteredExpression BEFREE The low MT1 and MT2 gene expression seems to be related to the onset of periodontal disease and implant rejection in Down syndrome patients, although more data are required to confirm whether this relationship is due to one of the two conditions, to both independently, or to the two jointly-this last option being indicated by our current study. 31540037

2019

Entrez Id: 1268
Gene Symbol: CNR1
CNR1
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 Biomarker BEFREE Our results identify CB1R as a novel druggable target potentially relevant for the improvement of cognitive deficits associated with Down syndrome. 30685352

2019

Entrez Id: 10657
Gene Symbol: KHDRBS1
KHDRBS1
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 Biomarker BEFREE This conclusion was further supported by the observation that over-expression of either STX17 or VAMP8 in DS fibroblasts restored autophagic degradation and reversed p62 accumulation. 31714914

2019

Entrez Id: 50616
Gene Symbol: IL22
IL22
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 GeneticVariation BEFREE Plasma cytokine analysis confirms elevation of multiple autoimmunity-related cytokines (e.g., TNF-α, IL17A-D, IL-22) in people with DS, independent of diagnosis of autoimmunity. 31699819

2019

Entrez Id: 25886
Gene Symbol: POC1A
POC1A
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 Biomarker BEFREE While an association may exist between non-isolated ARSA and Down syndrome, isolated ARSA might better serve as a soft marker for Down syndrome, rather than a routine indication for invasive prenatal testing.Copyright © 2018 ISUOG.Published by John Wiley & Sons Ltd. 30584678

2019

Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 Biomarker BEFREE Histologic analysis revealed peculiar alterations in thymic medulla size and maturation in DGS and DS patients. 30949166

2019

Entrez Id: 8894
Gene Symbol: EIF2S2
EIF2S2
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 Biomarker BEFREE Genetic and pharmacological suppression of the ISR, by inhibiting the ISR-inducing double-stranded RNA-activated protein kinase or boosting the function of the eukaryotic translation initiation factor eIF2-eIF2B complex, reversed the changes in translation and inhibitory synaptic transmission and rescued the synaptic plasticity and long-term memory deficits in DS mice. 31727829

2019

Entrez Id: 6223
Gene Symbol: RPS19
RPS19
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 GeneticVariation BEFREE After adjusting for confounders (age, level of ID, history of falls, comorbidities and number of non-DBI medications, Down syndrome (grip strength only) and gender (timed up and go and Barthel Index)), neither grip strength nor timed up and go were significantly associated with DBI, DBA or DBS score > 0 (p > 0.05). 31234775

2019

Entrez Id: 7097
Gene Symbol: TLR2
TLR2
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 AlteredExpression BEFREE We report TLR2 expression being significantly increased on neutrophils, total monocytes, and intermediate and nonclassical monocytes in children with DS (<i>n</i> = 20, mean age 8.8 ± SD 5.3 years, female <i>n</i> = 11) compared to controls (<i>n</i> = 15, mean age 6.2 ± 4.2 years, female <i>n</i> = 5). 31611734

2019

Entrez Id: 375056
Gene Symbol: MIA3
MIA3
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 Biomarker BEFREE The proposal relies on stimulating the cognitive visual-motor skills of individuals with Down Syndrome (DS) using exercises with a gestural interaction platform based on the KINECT sensor named TANGO:H, the goal being to improve them. 31540138

2019

Entrez Id: 406966
Gene Symbol: MIR191
MIR191
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 AlteredExpression BEFREE Our study revealed that there are 6 miRNAs were upregulated (hsa-miR-15a, hsa-let-7d, hsa-miR-142, hsa-miR-23a, hsa-miR-199, hsa-miR-191) and 7 were downregulated (hsa-miR-1290, hsa-miR-1915, hsa-miR30e, hsa-miR-1260, hsa-miR-483, hsa-miR-548, hsa-miR-590) in plasma samples of women with foetal DS syndrome. 30787377

2019

Entrez Id: 64506
Gene Symbol: CPEB1
CPEB1
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 Biomarker BEFREE Taking into account the fundamental role of CPEB1 protein and its target mRNAs in synaptic plasticity, these data could be relevant to the intellectual impairment in the context of DS. 30763690

2019

Entrez Id: 407031
Gene Symbol: MIR30C1
MIR30C1
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 AlteredExpression BEFREE An integrated analysis of miR and mRNA expression in the thymus in Down syndrome is reported in the present study. miR‑30c, miR‑145, miR‑183 and their targets may serve important roles in the pathogenesis and development of complications in Down syndrome. 31257513

2019

Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 AlteredExpression BEFREE The low MT1 and MT2 gene expression seems to be related to the onset of periodontal disease and implant rejection in Down syndrome patients, although more data are required to confirm whether this relationship is due to one of the two conditions, to both independently, or to the two jointly-this last option being indicated by our current study. 31540037

2019