Source: BEFREE

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: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 0.984 119 1 1988 2020
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.300 None 0.991 107 0 1996 2020
Entrez Id: 2623
Gene Symbol: GATA1
GATA1 		GATA binding protein 1 0.483 0.808 0.95
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.400 None 0.981 103 0 2002 2020
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1 		regulator of calcineurin 1 0.572 0.808 1.7E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.400 None 0.965 52 0 1995 2019
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.400 None 1.000 47 0 1977 2017
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.400 None 0.878 44 4 1999 2019
Entrez Id: 348
Gene Symbol: APOE
APOE 		apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 0.955 44 1 1994 2019
Entrez Id: 174
Gene Symbol: AFP
AFP 		alpha fetoprotein 0.429 0.885 1.1E-11
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 0.969 32 0 1986 2019
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1 		RUNX family transcription factor 1 0.425 0.808 0.65
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 0.970 32 0 1997 2019
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 30 6 1985 2019
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: 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 25 0 1995 2018
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: 6285
Gene Symbol: S100B
S100B 		S100 calcium binding protein B 0.383 0.923 4.4E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.400 None 1.000 22 0 1988 2019
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 16 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 15 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 11 0 2005 2017
Entrez Id: 406947
Gene Symbol: MIR155
MIR155 		microRNA 155 0.384 0.885
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.400 None 1.000 11 0 2007 2019
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1 		solute carrier family 19 member 1 0.523 0.692 6.5E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.400 None 0.786 11 7 2003 2013
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: 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