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: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.080 None 1.000 8 0 2007 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.080 None 1.000 8 0 1996 2019
Entrez Id: 728378
Gene Symbol: POTEF
POTEF
POTE ankyrin domain family member F 0.481 0.885 5.5E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.070 None 1.000 7 0 1999 2003
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.070 None 1.000 7 0 2006 2020
Entrez Id: 6271
Gene Symbol: S100A1
S100A1
S100 calcium binding protein A1 0.421 0.846 6.0E-03
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.070 None 1.000 7 0 1988 2001
Entrez Id: 7267
Gene Symbol: TTC3
TTC3
tetratricopeptide repeat domain 3 0.780 0.385 1.6E-40
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.070 None 1.000 7 0 1996 2014
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.070 None 1.000 7 0 1992 2019
Entrez Id: 6646
Gene Symbol: SOAT1
SOAT1
sterol O-acyltransferase 1 0.424 0.846 7.4E-10
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.060 None 0.833 6 0 2007 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.060 None 1.000 6 0 1990 2018
Entrez Id: 23621
Gene Symbol: BACE1
BACE1
beta-secretase 1 0.559 0.769 0.88
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.060 None 1.000 6 0 2005 2018
Entrez Id: 9560
Gene Symbol: CCL4L2
CCL4L2
C-C motif chemokine ligand 4 like 2 0.535 0.885 8.9E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.060 None 1.000 6 0 1998 2015
Entrez Id: 388372
Gene Symbol: CCL4L1
CCL4L1
C-C motif chemokine ligand 4 like 1 0.534 0.885 0.34
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.060 None 1.000 6 0 1998 2015
Entrez Id: 6351
Gene Symbol: CCL4
CCL4
C-C motif chemokine ligand 4 0.466 0.923 0.24
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.060 None 1.000 6 0 1998 2015
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
interleukin 1 beta 0.276 0.962 0.13
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.060 None 1.000 6 0 2004 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
microtubule associated protein tau 0.446 0.923 6.0E-03
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.060 None 1.000 6 0 2008 2018
Entrez Id: 94115
Gene Symbol: CGB8
CGB8
chorionic gonadotropin subunit beta 8 0.585 0.654 1.6E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.050 None 1.000 5 0 1990 2018
Entrez Id: 25825
Gene Symbol: BACE2
BACE2
beta-secretase 2 0.628 0.615 6.8E-03
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.050 None 0.800 5 0 2000 2014
Entrez Id: 78987
Gene Symbol: CRELD1
CRELD1
cysteine rich with EGF like domains 1 0.670 0.269 1.3E-11
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.050 None 0.800 5 5 2011 2018
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.050 None 1.000 5 0 1989 2015
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.050 None 1.000 5 2 1999 2018
Entrez Id: 1082
Gene Symbol: CGB3
CGB3
chorionic gonadotropin subunit beta 3 0.570 0.654 9.8E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.050 None 1.000 5 0 1990 2018
Entrez Id: 1081
Gene Symbol: CGA
CGA
glycoprotein hormones, alpha polypeptide 0.508 0.808 0.35
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.050 None 1.000 5 0 1990 2018
Entrez Id: 3569
Gene Symbol: IL6
IL6
interleukin 6 0.248 0.962 0.32
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.050 None 0.800 5 1 2001 2019
Entrez Id: 93659
Gene Symbol: CGB5
CGB5
chorionic gonadotropin subunit beta 5 0.579 0.654 2.5E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.050 None 1.000 5 0 1990 2018
Entrez Id: 1637
Gene Symbol: DCR
DCR
Down syndrome chromosome region 0.674 0.538
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.050 None 0.800 5 0 1993 2010