Source: ALL

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: 919
Gene Symbol: CD247
CD247 		CD247 molecule 0.539 0.731 1.7E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None < 0.001 1 0 2010 2010
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: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None < 0.001 1 0 2011 2011
Entrez Id: 64127
Gene Symbol: NOD2
NOD2 		nucleotide binding oligomerization domain containing 2 0.423 0.923 2.0E-30
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None < 0.001 1 0 2010 2010
Entrez Id: 3275
Gene Symbol: PRMT2
PRMT2 		protein arginine methyltransferase 2 0.722 0.385 1.6E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None < 0.001 1 0 2011 2011
Entrez Id: 1363
Gene Symbol: CPE
CPE 		carboxypeptidase E 0.584 0.692 0.99
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None < 0.001 1 0 1981 1981
Entrez Id: 23505
Gene Symbol: TMEM131
TMEM131 		transmembrane protein 131 0.769 0.269 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None < 0.001 1 0 2010 2010
Entrez Id: 1401
Gene Symbol: CRP
CRP 		C-reactive protein 0.299 0.962 3.7E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		arylsulfatase A 0.448 0.923 1.1E-11
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None < 0.001 1 1 2003 2003
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA 		myocardin related transcription factor A 0.572 0.615 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None < 0.001 1 0 2011 2011
Entrez Id: 443
Gene Symbol: ASPA
ASPA 		aspartoacylase 0.564 0.731 4.1E-04
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None < 0.001 1 0 2016 2016
Entrez Id: 56654
Gene Symbol: NPDC1
NPDC1 		neural proliferation, differentiation and control 1 0.711 0.423 3.0E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None < 0.001 1 0 2010 2010
Entrez Id: 10281
Gene Symbol: DSCR4
DSCR4 		Down syndrome critical region 4 0.890 0.115 7.8E-04
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.020 None 0.500 2 0 2011 2018
Entrez Id: 3455
Gene Symbol: IFNAR2
IFNAR2 		interferon alpha and beta receptor subunit 2 0.585 0.731 8.5E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.020 None 0.500 2 0 1983 2012
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B 		integrin subunit alpha 2b 0.493 0.692 1.5E-16
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.020 None 0.500 2 0 2014 2016
Entrez Id: 2626
Gene Symbol: GATA4
GATA4 		GATA binding protein 4 0.458 0.846 0.49
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.020 None 0.500 2 0 1998 2015
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.020 None 0.500 2 2 2008 2012
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410 		cilia and flagella associated protein 410 0.633 0.615 3.3E-07
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.020 None 0.500 2 0 2003 2003
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.020 None 0.500 2 0 2004 2009
Entrez Id: 1719
Gene Symbol: DHFR
DHFR 		dihydrofolate reductase 0.513 0.808 3.4E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.020 None 0.500 2 0 2010 2013
Entrez Id: 51227
Gene Symbol: PIGP
PIGP 		phosphatidylinositol glycan anchor biosynthesis class P 0.633 0.462 1.9E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 0.667 3 0 2000 2004
Entrez Id: 847
Gene Symbol: CAT
CAT 		catalase 0.359 0.962 1.6E-10
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.040 None 0.750 4 0 1990 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		neurofilament light 0.488 0.769
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.040 None 0.750 4 0 2009 2019
Entrez Id: 345643
Gene Symbol: MCIDAS
MCIDAS 		multiciliate differentiation and DNA synthesis associated cell cycle protein 0.566 0.769 1.3E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.040 None 0.750 4 0 2008 2019
Entrez Id: 3458
Gene Symbol: IFNG
IFNG 		interferon gamma 0.288 0.962 0.47
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.040 None 0.750 4 0 1991 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1 		serpin family A member 1 0.410 0.923 6.8E-08
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.040 None 0.750 4 0 1976 1982