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: 4869
Gene Symbol: NPM1
NPM1
nucleophosmin 1 0.464 0.846 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2014 2014
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: 51450
Gene Symbol: PRRX2
PRRX2
paired related homeobox 2 0.638 0.577 0.14
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2003 2003
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: 5155
Gene Symbol: PDGFB
PDGFB
platelet derived growth factor subunit B 0.488 0.846 0.77
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1987 1987
Entrez Id: 51567
Gene Symbol: TDP2
TDP2
tyrosyl-DNA phosphodiesterase 2 0.628 0.462 1.1E-08
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2017 2017
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: 5173
Gene Symbol: PDYN
PDYN
prodynorphin 0.535 0.577 1.7E-04
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 5226
Gene Symbol: PGD
PGD
phosphogluconate dehydrogenase 0.576 0.769 0.99
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
ATP binding cassette subfamily B member 1 0.344 0.885 1.3E-05
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5305
Gene Symbol: PIP4K2A
PIP4K2A
phosphatidylinositol-5-phosphate 4-kinase type 2 alpha 0.647 0.423 0.14
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5340
Gene Symbol: PLG
PLG
plasminogen 0.389 0.923 1.0E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5341
Gene Symbol: PLEK
PLEK
pleckstrin 0.588 0.731 1.1E-03
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5360
Gene Symbol: PLTP
PLTP
phospholipid transfer protein 0.633 0.654 9.0E-09
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2001 2001
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: 5142
Gene Symbol: PDE4B
PDE4B
phosphodiesterase 4B 0.566 0.731 0.47
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
phosphate cytidylyltransferase 1, choline, alpha 0.485 0.885 2.0E-05
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
5'-nucleotidase, cytosolic IIIA 0.593 0.692 1.5E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
5'-nucleotidase ecto 0.436 0.885 2.3E-11
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
neurotrophic receptor tyrosine kinase 1 0.422 0.808 2.0E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4929
Gene Symbol: NR4A2
NR4A2
nuclear receptor subfamily 4 group A member 2 0.529 0.846 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
OCA2 melanosomal transmembrane protein 0.539 0.808 2.9E-13
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2004 2004
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: 5052
Gene Symbol: PRDX1
PRDX1
peroxiredoxin 1 0.485 0.846 7.7E-10
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 5053
Gene Symbol: PAH
PAH
phenylalanine hydroxylase 0.516 0.769 6.4E-23
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 2019 2019