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: 10281
Gene Symbol: DSCR4
DSCR4
Down syndrome critical region 4 0.890 0.115 7.8E-04
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 0.500 2 0 2011 2018
Entrez Id: 257203
Gene Symbol: DSCR9
DSCR9
Down syndrome critical region 9 0.931 0.115
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 54033
Gene Symbol: RBM11
RBM11
RNA binding motif protein 11 0.931 0.115 2.2E-05
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 85319
Gene Symbol: BAGE2
BAGE2
BAGE family member 2 0.931 0.115
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 6450
Gene Symbol: SH3BGR
SH3BGR
SH3 domain binding glutamate rich protein 0.890 0.154 2.2E-03
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.030 None 1.000 3 0 1997 2004
Entrez Id: 100293516
Gene Symbol: ZNF587B
ZNF587B
zinc finger protein 587B 0.890 0.154 3.8E-13
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 200895
Gene Symbol: DHFR2
DHFR2
dihydrofolate reductase 2 0.890 0.154 0.22
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 4731
Gene Symbol: NDUFV3
NDUFV3
NADH:ubiquinone oxidoreductase subunit V3 0.890 0.154 2.8E-18
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 49854
Gene Symbol: ZBTB21
ZBTB21
zinc finger and BTB domain containing 21 0.890 0.154 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5143
Gene Symbol: PDE4C
PDE4C
phosphodiesterase 4C 0.805 0.154 1.5E-07
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 57180
Gene Symbol: ACTR3B
ACTR3B
actin related protein 3B 0.890 0.154 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 643236
Gene Symbol: TMEM72
TMEM72
transmembrane protein 72 0.890 0.154 0.78
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 9980
Gene Symbol: DOP1B
DOP1B
DOP1 leucine zipper like protein B 0.861 0.192 7.5E-21
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.040 None 1.000 4 0 2003 2009
Entrez Id: 7485
Gene Symbol: GET1
GET1
guided entry of tail-anchored proteins factor 1 0.805 0.192 8.7E-04
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.030 None 1.000 3 0 1998 2009
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: 338399
Gene Symbol: TAS2R62P
TAS2R62P
taste 2 receptor member 62 pseudogene 0.729 0.192
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 5152
Gene Symbol: PDE9A
PDE9A
phosphodiesterase 9A 0.736 0.192 4.6E-03
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 53820
Gene Symbol: RIPPLY3
RIPPLY3
ripply transcriptional repressor 3 0.839 0.192 8.4E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 57470
Gene Symbol: LRRC47
LRRC47
leucine rich repeat containing 47 0.890 0.192 0.87
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 653492
Gene Symbol: PSG10P
PSG10P
pregnancy specific beta-1-glycoprotein 10, pseudogene 0.805 0.192
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 6782
Gene Symbol: HSPA13
HSPA13
heat shock protein family A (Hsp70) member 13 0.821 0.192 1.7E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 7446
Gene Symbol: AVSD1
AVSD1
atrioventricular septal defect 1 0.751 0.192
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 85019
Gene Symbol: TMEM241
TMEM241
transmembrane protein 241 0.861 0.192 8.5E-07
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 9039
Gene Symbol: UBA3
UBA3
ubiquitin like modifier activating enzyme 3 0.805 0.192 0.50
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 58498
Gene Symbol: MYL7
MYL7
myosin light chain 7 0.760 0.231 1.8E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 1.000 2 0 2002 2004