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: 100423023
Gene Symbol: MIR3197
MIR3197
microRNA 3197 0.890 0.231
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 100463498
Gene Symbol: MTRNR2L12
MTRNR2L12
MT-RNR2 like 12 0.821 0.231
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 10238
Gene Symbol: DCAF7
DCAF7
DDB1 and CUL4 associated factor 7 0.821 0.231 0.93
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 10776
Gene Symbol: ARPP19
ARPP19
cAMP regulated phosphoprotein 19 0.839 0.231 0.77
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 51652
Gene Symbol: CHMP3
CHMP3
charged multivesicular body protein 3 0.792 0.231 4.0E-03
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 54149
Gene Symbol: C21orf91
C21orf91
chromosome 21 open reading frame 91 0.861 0.231 8.7E-04
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 6451
Gene Symbol: SH3BGRL
SH3BGRL
SH3 domain binding glutamate rich protein like 0.792 0.231 0.30
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1998 1998
Entrez Id: 90625
Gene Symbol: ERVH48-1
ERVH48-1
endogenous retrovirus group 48 member 1 0.839 0.231
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 9513
Gene Symbol: FXR2
FXR2
FMR1 autosomal homolog 2 0.805 0.231 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2006 2006
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: 5211
Gene Symbol: PFKL
PFKL
phosphofructokinase, liver type 0.722 0.269 2.7E-17
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 1.000 2 0 2001 2004
Entrez Id: 100526767
Gene Symbol: RNF103-CHMP3
RNF103-CHMP3
RNF103-CHMP3 readthrough 0.821 0.269 4.0E-03
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 143
Gene Symbol: PARP4
PARP4
poly(ADP-ribose) polymerase family member 4 0.729 0.269 4.8E-27
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1989 1989
Entrez Id: 23505
Gene Symbol: TMEM131
TMEM131
transmembrane protein 131 0.769 0.269 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None < 0.001 1 0 2010 2010
Entrez Id: 4666
Gene Symbol: NACA
NACA
nascent polypeptide associated complex subunit alpha 0.780 0.269 4.7E-05
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 55342
Gene Symbol: STRBP
STRBP
spermatid perinuclear RNA binding protein 0.839 0.269 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 8574
Gene Symbol: AKR7A2
AKR7A2
aldo-keto reductase family 7 member A2 0.743 0.269 2.0E-10
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 29761
Gene Symbol: USP25
USP25
ubiquitin specific peptidase 25 0.743 0.308 0.75
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 1.000 2 0 1999 2001
Entrez Id: 55014
Gene Symbol: STX17
STX17
syntaxin 17 0.792 0.308 9.5E-05
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7179
Gene Symbol: TPTE
TPTE
transmembrane phosphatase with tensin homology 0.821 0.308 5.6E-24
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 7511
Gene Symbol: XPNPEP1
XPNPEP1
X-prolyl aminopeptidase 1 0.729 0.346 0.33
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.030 None 1.000 3 0 1999 2006
Entrez Id: 81609
Gene Symbol: SNX27
SNX27
sorting nexin 27 0.722 0.346 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.030 None 1.000 3 0 2016 2018
Entrez Id: 8761
Gene Symbol: PABPC4
PABPC4
poly(A) binding protein cytoplasmic 4 0.729 0.346 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.030 None 1.000 3 0 1999 2006
Entrez Id: 10600
Gene Symbol: USP16
USP16
ubiquitin specific peptidase 16 0.805 0.346 1.8E-09
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 1.000 2 0 2013 2018
Entrez Id: 100506492
Gene Symbol: DSCAM-AS1
DSCAM-AS1
DSCAM antisense RNA 1 0.722 0.346
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2017 2017