Source: LHGDN

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 11 0 2002 2020
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 10 0 1999 2019
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 6 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 3 0 1977 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 2 0 1988 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 1 0 2003 2013
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 3 0 2001 2003
Entrez Id: 9588
Gene Symbol: PRDX6
PRDX6
peroxiredoxin 6 0.572 0.731 4.8E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.310 None 1.000 1 0 2001 2003
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 6 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 7 0 1988 2020
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 4 0 1985 2019
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 3 0 2007 2018
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 3 0 2007 2017
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 2 0 1997 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 2 0 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 2 0 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 1 0 1998 2019
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 1 0 1996 2020
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 1 0 1995 2015
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 1 0 1995 2018
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 1 0 1994 2019
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 1 0 2005 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 1 0 1989 2015
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 2 0 2005 2018
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 1 0 1992 2019