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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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 1 0 1990 2018
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 1 0 1990 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
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 1 0 2001 2019
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.060 None 1.000 1 0 1993 2015
Entrez Id: 836
Gene Symbol: CASP3
CASP3
caspase 3 0.351 0.923 0.10
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.050 None 1.000 1 0 2002 2019
Entrez Id: 5228
Gene Symbol: PGF
PGF
placental growth factor 0.460 0.846 0.13
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.050 None 1.000 1 0 2002 2016
Entrez Id: 25825
Gene Symbol: BACE2
BACE2
beta-secretase 2 0.628 0.615 6.8E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.050 None 0.800 1 0 2000 2014
Entrez Id: 5978
Gene Symbol: REST
REST
RE1 silencing transcription factor 0.535 0.808 0.99
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.030 None 1.000 1 0 2002 2008
Entrez Id: 51227
Gene Symbol: PIGP
PIGP
phosphatidylinositol glycan anchor biosynthesis class P 0.633 0.462 1.9E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.030 None 0.667 1 0 2000 2004
Entrez Id: 6453
Gene Symbol: ITSN1
ITSN1
intersectin 1 0.656 0.577 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.030 None 1.000 1 0 2006 2011
Entrez Id: 2173
Gene Symbol: FABP7
FABP7
fatty acid binding protein 7 0.584 0.577 7.9E-04
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.030 None 1.000 1 0 2003 2009
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.030 None 1.000 1 0 2004 2016
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.030 None 1.000 1 0 1993 2014
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
prion protein 0.445 0.923 6.3E-04
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.030 None 1.000 1 0 1986 2003
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.030 None 1.000 1 0 2006 2010