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: 102724560
Gene Symbol: CBSL
CBSL
cystathionine beta-synthase like 0.540 0.808
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.955 22 0 1989 2019
Entrez Id: 406947
Gene Symbol: MIR155
MIR155
microRNA 155 0.384 0.885
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.090 None 1.000 9 0 2012 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: 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
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
neurofilament light 0.488 0.769
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.040 None 0.750 4 0 2009 2019
Entrez Id: 100302142
Gene Symbol: MIR1246
MIR1246
microRNA 1246 0.592 0.808
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.030 None 1.000 3 0 2011 2015
Entrez Id: 140805
Gene Symbol: HT
HT
Hashimoto thyroiditis 0.505 0.731
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.030 None 1.000 3 0 2017 2019
Entrez Id: 768219
Gene Symbol: MIR802
MIR802
microRNA 802 0.653 0.462
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.030 None 1.000 3 0 2013 2015
Entrez Id: 100528016
Gene Symbol: TMX2-CTNND1
TMX2-CTNND1
TMX2-CTNND1 readthrough (NMD candidate) 0.538 0.769
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 1.000 2 0 2019 2019
Entrez Id: 115482683
Gene Symbol: H3P7
H3P7
H3 histone pseudogene 7 0.686 0.538
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 1.000 2 0 1996 1996
Entrez Id: 191585
Gene Symbol: PLAC4
PLAC4
placenta enriched 4 0.861 0.192
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 1.000 2 0 2012 2017
Entrez Id: 3439
Gene Symbol: IFNA1
IFNA1
interferon alpha 1 0.371 0.923
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 1.000 2 0 1993 2019
Entrez Id: 3447
Gene Symbol: IFNA13
IFNA13
interferon alpha 13 0.374 0.923
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 1.000 2 0 1993 2019
Entrez Id: 407055
Gene Symbol: MIR99A
MIR99A
microRNA 99a 0.536 0.808
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 1.000 2 0 2016 2016
Entrez Id: 100129518
Gene Symbol: SOD2-OT1
SOD2-OT1
SOD2 overlapping transcript 1 0.722 0.500
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 100302740
Gene Symbol: FAS-AS1
FAS-AS1
FAS antisense RNA 1 0.695 0.538
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2013 2013
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: 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
Entrez Id: 102724023
Gene Symbol: GATD3B
GATD3B
glutamine amidotransferase like class 1 domain containing 3B 0.636 0.577
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 1055
Gene Symbol: CECR
CECR
cat eye syndrome chromosome region 0.599 0.731
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1994 1994
Entrez Id: 112935892
Gene Symbol: LINC02605
LINC02605
long intergenic non-protein coding RNA 2605 0.490 0.769
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 115482713
Gene Symbol: H3P10
H3P10
H3 histone pseudogene 10 0.350 0.846
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1714
Gene Symbol: DGCR
DGCR
DiGeorge syndrome chromosome region 0.678 0.538
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2233
Gene Symbol: FEB1
FEB1
febrile convulsions 1 0.780 0.346
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2018 2018