Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100528016
Gene Symbol: TMX2-CTNND1
TMX2-CTNND1
0.020 Biomarker disease BEFREE <b>Abbreviations</b>: CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; II: Intelligibility Index; No MSD: No Motor Speech Disorder; OII: Ordinal Intelligibility Index; PSD: Persistent Speech Delay; SDCS: Speech Disorders Classification System; SMD: Speech Motor Delay. 31221010 2019
Entrez Id: 1434
Gene Symbol: CSE1L
CSE1L
0.020 Biomarker disease BEFREE <b>Abbreviations</b>: CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; II: Intelligibility Index; No MSD: No Motor Speech Disorder; OII: Ordinal Intelligibility Index; PSD: Persistent Speech Delay; SDCS: Speech Disorders Classification System; SMD: Speech Motor Delay. 31221010 2019
Entrez Id: 9564
Gene Symbol: BCAR1
BCAR1
0.020 Biomarker disease BEFREE <b>Abbreviations</b>: CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; II: Intelligibility Index; No MSD: No Motor Speech Disorder; OII: Ordinal Intelligibility Index; PSD: Persistent Speech Delay; SDCS: Speech Disorders Classification System; SMD: Speech Motor Delay. 31221010 2019
Entrez Id: 1500
Gene Symbol: CTNND1
CTNND1
0.020 Biomarker disease BEFREE <b>Abbreviations</b>: CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; II: Intelligibility Index; No MSD: No Motor Speech Disorder; OII: Ordinal Intelligibility Index; PSD: Persistent Speech Delay; SDCS: Speech Disorders Classification System; SMD: Speech Motor Delay. 31221010 2019
Entrez Id: 1434
Gene Symbol: CSE1L
CSE1L
0.020 Biomarker disease BEFREE <b>Abbreviations:</b> CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; NSA: Normal(ized) Speech Acquisition; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SE: Speech Errors; SMD: Speech Motor Delay. 31221009 2019
Entrez Id: 100528016
Gene Symbol: TMX2-CTNND1
TMX2-CTNND1
0.020 Biomarker disease BEFREE <b>Abbreviations:</b> CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; NSA: Normal(ized) Speech Acquisition; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SE: Speech Errors; SMD: Speech Motor Delay. 31221009 2019
Entrez Id: 1500
Gene Symbol: CTNND1
CTNND1
0.020 Biomarker disease BEFREE <b>Abbreviations:</b> CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; NSA: Normal(ized) Speech Acquisition; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SE: Speech Errors; SMD: Speech Motor Delay. 31221009 2019
Entrez Id: 9564
Gene Symbol: BCAR1
BCAR1
0.020 Biomarker disease BEFREE <b>Abbreviations:</b> CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; NSA: Normal(ized) Speech Acquisition; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SE: Speech Errors; SMD: Speech Motor Delay. 31221009 2019
Entrez Id: 5662
Gene Symbol: PSD
PSD
0.010 Biomarker disease BEFREE <b>Abbreviations:</b> CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; NSA: Normal(ized) Speech Acquisition; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SE: Speech Errors; SMD: Speech Motor Delay. 31221009 2019
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
0.030 AlteredExpression disease BEFREE (2018) establish a link between these diseases, finding that cilium function is compromised in Down syndrome as a result of increased Pericentrin expression. 30205034 2018
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
0.100 AlteredExpression disease BEFREE 2), its homology to the mnb gene, and the in situ hybridization expression patterns of the murine Dyrk combined with the fact that transgenic mice for a YAC to which DYRK maps are mentally deficient suggest that DYRK may be involved in the abnormal neurogenesis found in Down syndrome. 8975710 1996
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.100 Biomarker disease BEFREE 3) or DS candidate region 1 (DSCR1) genes (a previously known suppressor of angiogenesis) is sufficient to inhibit tumour growth. 20535211 2010
Entrez Id: 174
Gene Symbol: AFP
AFP
0.100 Biomarker disease BEFREE Down's syndrome risks are estimated between 15 and 20 completed weeks' gestation (cGW) using an algorithm involving maternal age and serum alpha-fetoprotein (AFP), chorionic gonadotrophin and unconjugated oestriol levels, each expressed as a multiple of the median level (MoM) at the cGW. 11392497 2001
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
0.100 AlteredExpression disease BEFREE Down's syndrome (trisomy 21) brain tissue is considered to be susceptible to oxidative injury, mainly because its increased Cu/Zn-superoxide dismutase (SOD1) activity is not followed by an adaptive rise in hydrogen peroxide metabolizing enzymes. 15525277 2004
Entrez Id: 388372
Gene Symbol: CCL4L1
CCL4L1
0.060 Biomarker disease BEFREE Down Syndrome (DS) is caused by the presence of three copies of the whole human chromosome 21 (HC21) or of a HC21 restricted region; the phenotype is likely to have originated from the altered expression of genes in the HC21. 15598213 2004
Entrez Id: 6351
Gene Symbol: CCL4
CCL4
0.060 Biomarker disease BEFREE Down Syndrome (DS) is caused by the presence of three copies of the whole human chromosome 21 (HC21) or of a HC21 restricted region; the phenotype is likely to have originated from the altered expression of genes in the HC21. 15598213 2004
Entrez Id: 9560
Gene Symbol: CCL4L2
CCL4L2
0.060 Biomarker disease BEFREE Down Syndrome (DS) is caused by the presence of three copies of the whole human chromosome 21 (HC21) or of a HC21 restricted region; the phenotype is likely to have originated from the altered expression of genes in the HC21. 15598213 2004
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.080 AlteredExpression disease BEFREE Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group. 19965641 2010
Entrez Id: 58531
Gene Symbol: PRM3
PRM3
0.010 Biomarker disease BEFREE Down syndrome (DS) critical region gene 4 (DSCR4) promoter region was found to be hypomethylated in placental tissues and densely methylated in maternal blood cells. 21268042 2011
Entrez Id: 57674
Gene Symbol: RNF213
RNF213
0.010 Biomarker disease BEFREE Down syndrome and RNF213 variant contribute to the development of moyamoya vasculopathy in different ways. 25547042 2015
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
0.100 Biomarker disease BEFREE Down syndrome-associated dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A (DYRK1A) is a ubiquitously expressed protein kinase. 27056896 2016
Entrez Id: 351
Gene Symbol: APP
APP
0.100 Biomarker disease BEFREE Down syndrome (DS) patients with chromosome 21 trisomy present AD-like pathologies at earlier ages (40s) compared with sporadic AD patients, because APP gene expression is 1.5-fold higher than that in healthy people, thus causing a 1.5-fold increase in Aβ production. 28250274 2017
Entrez Id: 351
Gene Symbol: APP
APP
0.100 GeneticVariation disease BEFREE Down syndrome (DS) arises from a triplication of chromosome 21, causing overproduction of the amyloid precursor protein and predisposes individuals to early Alzheimer's disease (AD). 28603769 2017
Entrez Id: 23621
Gene Symbol: BACE1
BACE1
0.060 Biomarker disease BEFREE Down syndrome) owing to impairment of BACE1-mediated processing of CHL1. 29391027 2018
Entrez Id: 10752
Gene Symbol: CHL1
CHL1
0.010 Biomarker disease BEFREE Down syndrome) owing to impairment of BACE1-mediated processing of CHL1. 29391027 2018