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: 4914
Gene Symbol: NTRK1
NTRK1 		neurotrophic receptor tyrosine kinase 1 0.422 0.808 2.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB 		platelet derived growth factor subunit B 0.488 0.846 0.77
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 1987 1987
Entrez Id: 51567
Gene Symbol: TDP2
TDP2 		tyrosyl-DNA phosphodiesterase 2 0.628 0.462 1.1E-08
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 51652
Gene Symbol: CHMP3
CHMP3 		charged multivesicular body protein 3 0.792 0.231 4.0E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 5173
Gene Symbol: PDYN
PDYN 		prodynorphin 0.535 0.577 1.7E-04
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 5226
Gene Symbol: PGD
PGD 		phosphogluconate dehydrogenase 0.576 0.769 0.99
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 5305
Gene Symbol: PIP4K2A
PIP4K2A 		phosphatidylinositol-5-phosphate 4-kinase type 2 alpha 0.647 0.423 0.14
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5340
Gene Symbol: PLG
PLG 		plasminogen 0.389 0.923 1.0E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5341
Gene Symbol: PLEK
PLEK 		pleckstrin 0.588 0.731 1.1E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5360
Gene Symbol: PLTP
PLTP 		phospholipid transfer protein 0.633 0.654 9.0E-09
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 53820
Gene Symbol: RIPPLY3
RIPPLY3 		ripply transcriptional repressor 3 0.839 0.192 8.4E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1 		paired related homeobox 1 0.543 0.769 0.24
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 54014
Gene Symbol: BRWD1
BRWD1 		bromodomain and WD repeat domain containing 1 0.839 0.192 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 54033
Gene Symbol: RBM11
RBM11 		RNA binding motif protein 11 0.931 0.115 2.2E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 54093
Gene Symbol: SETD4
SETD4 		SET domain containing 4 0.780 0.346 4.0E-13
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 1 2015 2015
Entrez Id: 54101
Gene Symbol: RIPK4
RIPK4 		receptor interacting serine/threonine kinase 4 0.565 0.654 4.0E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 54149
Gene Symbol: C21orf91
C21orf91 		chromosome 21 open reading frame 91 0.861 0.231 8.7E-04
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5424
Gene Symbol: POLD1
POLD1 		DNA polymerase delta 1, catalytic subunit 0.507 0.769 2.4E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5152
Gene Symbol: PDE9A
PDE9A 		phosphodiesterase 9A 0.736 0.192 4.6E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 51450
Gene Symbol: PRRX2
PRRX2 		paired related homeobox 2 0.638 0.577 0.14
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 4929
Gene Symbol: NR4A2
NR4A2 		nuclear receptor subfamily 4 group A member 2 0.529 0.846 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 4948
Gene Symbol: OCA2
OCA2 		OCA2 melanosomal transmembrane protein 0.539 0.808 2.9E-13
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 49854
Gene Symbol: ZBTB21
ZBTB21 		zinc finger and BTB domain containing 21 0.890 0.154 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5053
Gene Symbol: PAH
PAH 		phenylalanine hydroxylase 0.516 0.769 6.4E-23
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5058
Gene Symbol: PAK1
PAK1 		p21 (RAC1) activated kinase 1 0.494 0.808 1.3E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2004 2004