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: 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: 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: 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: 1637
Gene Symbol: DCR
DCR
Down syndrome chromosome region 0.674 0.538
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.360 None 0.833 6 0 1993 2010
Entrez Id: 768219
Gene Symbol: MIR802
MIR802
microRNA 802 0.653 0.462
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.340 None 1.000 4 0 2013 2018
Entrez Id: 7001
Gene Symbol: PRDX2
PRDX2
peroxiredoxin 2 0.474 0.885 8.7E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.330 None 1.000 2 0 2001 2003
Entrez Id: 407055
Gene Symbol: MIR99A
MIR99A
microRNA 99a 0.536 0.808
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.320 None 1.000 2 0 2016 2018
Entrez Id: 406912
Gene Symbol: MIR125B2
MIR125B2
microRNA 125b-2 0.659 0.423
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.320 None 1.000 2 0 2010 2018
Entrez Id: 7432
Gene Symbol: VIP
VIP
vasoactive intestinal peptide 0.437 0.846 4.2E-04
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.310 None 1.000 1 0 2006 2006
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
C-X-C motif chemokine ligand 8 0.310 0.962 2.7E-04
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.310 None 1.000 1 0 2005 2006
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: 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: 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: 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