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: 1
Gene Symbol: A1BG
A1BG
alpha-1-B glycoprotein 0.700 0.538 5.0E-09
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 2
Gene Symbol: A2M
A2M
alpha-2-macroglobulin 0.529 0.769 4.5E-11
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1980 1980
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
ATP binding cassette subfamily B member 1 0.344 0.885 1.3E-05
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9619
Gene Symbol: ABCG1
ABCG1
ATP binding cassette subfamily G member 1 0.560 0.692 0.11
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 1.000 2 0 2007 2009
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
ATP binding cassette subfamily G member 2 (Junior blood group) 0.419 0.885 2.1E-32
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None < 0.001 1 0 2011 2011
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 1.000 2 0 2010 2012
Entrez Id: 57007
Gene Symbol: ACKR3
ACKR3
atypical chemokine receptor 3 0.428 0.885 0.39
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 48
Gene Symbol: ACO1
ACO1
aconitase 1 0.628 0.577 3.8E-18
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2013 2013
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: 10097
Gene Symbol: ACTR2
ACTR2
actin related protein 2 0.659 0.654 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 57180
Gene Symbol: ACTR3B
ACTR3B
actin related protein 3B 0.890 0.154 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
activin A receptor type 1 0.535 0.731 0.33
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 103
Gene Symbol: ADAR
ADAR
adenosine deaminase RNA specific 0.501 0.808 2.6E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
adiponectin, C1Q and collagen domain containing 0.376 0.885 4.6E-09
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 1.000 2 0 2017 2017
Entrez Id: 148
Gene Symbol: ADRA1A
ADRA1A
adrenoceptor alpha 1A 0.462 0.846 3.4E-07
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
adrenoceptor alpha 2B 0.465 0.846 4.5E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 154
Gene Symbol: ADRB2
ADRB2
adrenoceptor beta 2 0.442 0.923 0.53
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2014 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: 175
Gene Symbol: AGA
AGA
aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1993 1993
Entrez Id: 10598
Gene Symbol: AHSA1
AHSA1
activator of HSP90 ATPase activity 1 0.396 0.923 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 130872
Gene Symbol: AHSA2P
AHSA2P
activator of HSP90 ATPase homolog 2, pseudogene 0.805 0.346 1.8E-04
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
activation induced cytidine deaminase 0.463 0.885 9.2E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 326
Gene Symbol: AIRE
AIRE
autoimmune regulator 0.516 0.808 4.0E-12
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.040 None 1.000 4 0 1999 2011
Entrez Id: 8574
Gene Symbol: AKR7A2
AKR7A2
aldo-keto reductase family 7 member A2 0.743 0.269 2.0E-10
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.030 None 1.000 3 0 2013 2018