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: 875
Gene Symbol: CBS
CBS 		cystathionine beta-synthase 0.465 0.885 3.1E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 0.935 31 6 1985 2019
Entrez Id: 5069
Gene Symbol: PAPPA
PAPPA 		pappalysin 1 0.558 0.692 0.16
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 0.923 26 0 1995 2018
Entrez Id: 2114
Gene Symbol: ETS2
ETS2 		ETS proto-oncogene 2, transcription factor 0.548 0.808 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 1.000 26 4 1987 2014
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL 		cystathionine beta-synthase like 0.540 0.808
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 0.960 25 0 1985 2019
Entrez Id: 4552
Gene Symbol: MTRR
MTRR 		5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.502 0.808 2.2E-14
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 0.875 24 2 2000 2017
Entrez Id: 4548
Gene Symbol: MTR
MTR 		5-methyltetrahydrofolate-homocysteine methyltransferase 0.482 0.808 2.4E-12
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 0.824 17 2 2003 2014
Entrez Id: 1826
Gene Symbol: DSCAM
DSCAM 		DS cell adhesion molecule 0.686 0.385 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 1.000 17 0 1998 2019
Entrez Id: 6493
Gene Symbol: SIM2
SIM2 		SIM bHLH transcription factor 2 0.619 0.731 0.20
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 1.000 16 2 1995 2015
Entrez Id: 64109
Gene Symbol: CRLF2
CRLF2 		cytokine receptor like factor 2 0.615 0.538 3.3E-07
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 1.000 14 0 2009 2019
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0013080
Disease: Down Syndrome
Down 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: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 0.833 12 0 2005 2017
Entrez Id: 2078
Gene Symbol: ERG
ERG 		ETS transcription factor ERG 0.453 0.808 0.96
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 1.000 11 0 1996 2020
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		Janus kinase 2 0.385 0.885 0.65
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 1.000 10 0 2007 2017
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		microtubule associated protein tau 0.446 0.923 6.0E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 1.000 10 0 2007 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 0.900 10 4 1999 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.090 None 1.000 9 0 1996 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.080 None 1.000 8 0 1990 2018
Entrez Id: 7267
Gene Symbol: TTC3
TTC3 		tetratricopeptide repeat domain 3 0.780 0.385 1.6E-40
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.080 None 1.000 8 0 1996 2017
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.080 None 1.000 8 0 1989 2015
Entrez Id: 1081
Gene Symbol: CGA
CGA 		glycoprotein hormones, alpha polypeptide 0.508 0.808 0.35
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.070 None 1.000 7 0 1990 2018
Entrez Id: 6271
Gene Symbol: S100A1
S100A1 		S100 calcium binding protein A1 0.421 0.846 6.0E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.070 None 1.000 7 0 1988 2001
Entrez Id: 1082
Gene Symbol: CGB3
CGB3 		chorionic gonadotropin subunit beta 3 0.570 0.654 9.8E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.070 None 1.000 7 0 1990 2018
Entrez Id: 728378
Gene Symbol: POTEF
POTEF 		POTE ankyrin domain family member F 0.481 0.885 5.5E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.070 None 1.000 7 0 1999 2003
Entrez Id: 7124
Gene Symbol: TNF
TNF 		tumor necrosis factor 0.231 0.962 0.80
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.070 None 1.000 7 0 1992 2019
Entrez Id: 23621
Gene Symbol: BACE1
BACE1 		beta-secretase 1 0.559 0.769 0.88
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.070 None 1.000 7 0 2005 2018