Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.982 109 1 1988 2020
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.990 100 0 1996 2020
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
GATA binding protein 1 0.483 0.808 0.95
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.988 83 0 2002 2020
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
regulator of calcineurin 1 0.572 0.808 1.7E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.959 49 0 1995 2019
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.952 42 1 1994 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.854 41 4 1999 2019
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.379 0.962 0.18
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 1.000 40 0 1980 2017
Entrez Id: 875
Gene Symbol: CBS
CBS
cystathionine beta-synthase 0.465 0.885 3.1E-05
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.926 27 6 1989 2019
Entrez Id: 2114
Gene Symbol: ETS2
ETS2
ETS proto-oncogene 2, transcription factor 0.548 0.808 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 1.000 25 4 1987 2014
Entrez Id: 174
Gene Symbol: AFP
AFP
alpha fetoprotein 0.429 0.885 1.1E-11
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.957 23 0 1986 2019
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.502 0.808 2.2E-14
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.870 23 2 2000 2017
Entrez Id: 6285
Gene Symbol: S100B
S100B
S100 calcium binding protein B 0.383 0.923 4.4E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 1.000 22 0 1988 2019
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
cystathionine beta-synthase like 0.540 0.808
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.955 22 0 1989 2019
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
RUNX family transcription factor 1 0.425 0.808 0.65
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.941 17 0 1997 2019
Entrez Id: 1826
Gene Symbol: DSCAM
DSCAM
DS cell adhesion molecule 0.686 0.385 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 1.000 16 0 1998 2019
Entrez Id: 4548
Gene Symbol: MTR
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase 0.482 0.808 2.4E-12
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.812 16 2 2003 2014
Entrez Id: 64109
Gene Symbol: CRLF2
CRLF2
cytokine receptor like factor 2 0.615 0.538 3.3E-07
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 1.000 14 0 2009 2019
Entrez Id: 6493
Gene Symbol: SIM2
SIM2
SIM bHLH transcription factor 2 0.619 0.731 0.20
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 1.000 14 2 1995 2015
Entrez Id: 5069
Gene Symbol: PAPPA
PAPPA
pappalysin 1 0.558 0.692 0.16
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.929 14 0 1995 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 1.000 13 0 1999 2020
Entrez Id: 5981
Gene Symbol: RFC1
RFC1
replication factor C subunit 1 0.541 0.808 0.97
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.800 10 0 2006 2017
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
solute carrier family 19 member 1 0.523 0.692 6.5E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.700 10 7 2006 2013
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.900 10 4 1999 2017
Entrez Id: 2078
Gene Symbol: ERG
ERG
ETS transcription factor ERG 0.453 0.808 0.96
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 1.000 10 0 1996 2020
Entrez Id: 406947
Gene Symbol: MIR155
MIR155
microRNA 155 0.384 0.885
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.090 None 1.000 9 0 2012 2019