Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 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: 60
Gene Symbol: ACTB
ACTB
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 Biomarker BEFREE Overall, the results demonstrate marked synaptic disturbances in two actin regulatory proteins in adult DS and AD brains, with greater effects in individuals with AD alone. 31410926

2020

Entrez Id: 2078
Gene Symbol: ERG
ERG
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 Biomarker BEFREE Our findings suggest that Erg gene triplication contributes to the dysregulation of the homeostatic proportion of the populations of immune cells in the embryonic brain and decreased prenatal cortical neurogenesis in the prenatal brain with DS. 31206867

2020

Entrez Id: 2623
Gene Symbol: GATA1
GATA1
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE GATA1 and cooperating mutations in myeloid leukaemia of Down syndrome. 31769932

2020

Entrez Id: 351
Gene Symbol: APP
APP
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 AlteredExpression BEFREE Whereas at 2 months of age normal levels of APP expression in the hippocampus was correlated with increased levels of miR-17, -101 and -106b in DS mice. 31605772

2020

Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.070 Biomarker BEFREE microRNAs expression correlates with levels of APP, DYRK1A, hyperphosphorylated Tau and BDNF in the hippocampus of a mouse model for Down syndrome during ageing. 31605772

2020

Entrez Id: 3586
Gene Symbol: IL10
IL10
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.030 Biomarker BEFREE The importance of the anti-inflammatory mediators IL-1ra and IL-10, as well as cytokines Epo and VEGF, which could impact on the pathogenesis and outcomes in congenital heart disease (CHD) which is more prevalent in DS, are less well known. 31785499

2020

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.030 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: 3558
Gene Symbol: IL2
IL2
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.020 AlteredExpression BEFREE Children with Down syndrome exhibit significantly greater levels of pro and anti-inflammatory cytokines; IL-2, IL-6, IL-10, IL-1ra, as well as increased Epo, VEGF and GM-CSF at baseline. 31785499

2020

Entrez Id: 3557
Gene Symbol: IL1RN
IL1RN
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.020 Biomarker BEFREE The importance of the anti-inflammatory mediators IL-1ra and IL-10, as well as cytokines Epo and VEGF, which could impact on the pathogenesis and outcomes in congenital heart disease (CHD) which is more prevalent in DS, are less well known. 31785499

2020

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: 351
Gene Symbol: APP
APP
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 Biomarker BEFREE Elimination of amyloid precursor protein in senile plaques in the brain of a patient with Alzheimer-type dementia and Down syndrome. 30086988

2019

Entrez Id: 351
Gene Symbol: APP
APP
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 Biomarker BEFREE The therapeutic value of inhibiting translation of the amyloid precursor protein (APP) offers the possibility to reduce neurotoxic amyloid formation, particularly in cases of familial Alzheimer's disease (AD) caused by APP gene duplications (Dup⁻APP) and in aging Down syndrome individuals. 30823541

2019

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 Biomarker BEFREE These results provide further insight into the roles of DYRK1A triplication in abnormal aging and synaptic dysfunction in DS. 30703437

2019

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE MTHFR C677T, but not A1298C, was associated with neural tube defects (OR, 1.24; 95% CI, 1.08-1.42) and Down syndrome (OR, 1.65; 95% CI, 1.39-1.95). 30474229

2019

Entrez Id: 351
Gene Symbol: APP
APP
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE The focus of Alzheimer's disease (AD) neuroimaging research has shifted towards an investigation of the earliest stages of AD pathogenesis, which manifests in every young adult with Down syndrome (DS; trisomy 21) resulting from a deterministic genetic predisposition to amyloid precursor protein overproduction. 29752653

2019