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: 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: 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: 78987
Gene Symbol: CRELD1
CRELD1 		cysteine rich with EGF like domains 1 0.670 0.269 1.3E-11
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.050 None 0.800 5 5 2011 2018
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: 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: 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: 2897
Gene Symbol: GRIK1
GRIK1 		glutamate ionotropic receptor kainate type subunit 1 0.641 0.462 1.2E-09
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.020 None 1.000 2 3 1993 2009
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		NK2 homeobox 5 0.533 0.692 0.95
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 3 2015 2015
Entrez Id: 9863
Gene Symbol: MAGI2
MAGI2 		membrane associated guanylate kinase, WW and PDZ domain containing 2 0.579 0.654 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 3 2010 2010
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: 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: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.050 None 1.000 5 2 1999 2018
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B 		DNA methyltransferase 3 beta 0.453 0.846 0.20
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.050 None 1.000 5 2 2013 2018
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.040 None 1.000 3 2 1999 2018
Entrez Id: 571
Gene Symbol: BACH1
BACH1 		BTB domain and CNC homolog 1 0.585 0.731 0.57
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 1.000 2 2 2003 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: 4650
Gene Symbol: MYO9B
MYO9B 		myosin IXB 0.644 0.615 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 2 2010 2010
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: 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: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.050 None 1.000 5 1 2004 2020
Entrez Id: 3569
Gene Symbol: IL6
IL6 		interleukin 6 0.248 0.962 0.32
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.060 None 0.833 5 1 2001 2019
Entrez Id: 55349
Gene Symbol: CHDH
CHDH 		choline dehydrogenase 0.529 0.769 1.7E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 1.000 3 1 2017 2018
Entrez Id: 873
Gene Symbol: CBR1
CBR1 		carbonyl reductase 1 0.572 0.654 6.3E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 1.000 3 1 2003 2015
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1 		methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 0.554 0.769 4.5E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 1.000 3 1 2012 2015