Source: LHGDN

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: 85319
Gene Symbol: BAGE2
BAGE2
BAGE family member 2 0.931 0.115
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 51138
Gene Symbol: COPS4
COPS4
COP9 signalosome subunit 4 0.839 0.154 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 9980
Gene Symbol: DOP1B
DOP1B
DOP1 leucine zipper like protein B 0.861 0.192 7.5E-21
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.040 None 1.000 2 0 2003 2009
Entrez Id: 54014
Gene Symbol: BRWD1
BRWD1
bromodomain and WD repeat domain containing 1 0.839 0.192 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 10231
Gene Symbol: RCAN2
RCAN2
regulator of calcineurin 2 0.821 0.231 0.83
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 10776
Gene Symbol: ARPP19
ARPP19
cAMP regulated phosphoprotein 19 0.839 0.231 0.77
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 9796
Gene Symbol: PHYHIP
PHYHIP
phytanoyl-CoA 2-hydroxylase interacting protein 0.861 0.231 0.86
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4666
Gene Symbol: NACA
NACA
nascent polypeptide associated complex subunit alpha 0.780 0.269 4.7E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 5936
Gene Symbol: RBM4
RBM4
RNA binding motif protein 4 0.736 0.269 0.99
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 1141
Gene Symbol: CHRNB2
CHRNB2
cholinergic receptor nicotinic beta 2 subunit 0.617 0.308 7.3E-04
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 2029
Gene Symbol: ENSA
ENSA
endosulfine alpha 0.760 0.308 0.35
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 2665
Gene Symbol: GDI2
GDI2
GDP dissociation inhibitor 2 0.760 0.308 0.85
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 3772
Gene Symbol: KCNJ15
KCNJ15
potassium inwardly rectifying channel subfamily J member 15 0.769 0.308 0.11
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 7179
Gene Symbol: TPTE
TPTE
transmembrane phosphatase with tensin homology 0.821 0.308 5.6E-24
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 10570
Gene Symbol: DPYSL4
DPYSL4
dihydropyrimidinase like 4 0.792 0.346 1.6E-08
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1826
Gene Symbol: DSCAM
DSCAM
DS cell adhesion molecule 0.686 0.385 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.100 None 1.000 1 0 1998 2019
Entrez Id: 8566
Gene Symbol: PDXK
PDXK
pyridoxal kinase 0.705 0.385 0.75
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 1809
Gene Symbol: DPYSL3
DPYSL3
dihydropyrimidinase like 3 0.628 0.462 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 51227
Gene Symbol: PIGP
PIGP
phosphatidylinositol glycan anchor biosynthesis class P 0.633 0.462 1.9E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.030 None 0.667 1 0 2000 2004
Entrez Id: 7004
Gene Symbol: TEAD4
TEAD4
TEA domain transcription factor 4 0.636 0.500 3.2E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 7532
Gene Symbol: YWHAG
YWHAG
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma 0.621 0.500 0.96
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 25902
Gene Symbol: MTHFD1L
MTHFD1L
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like 0.674 0.538 1.9E-12
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
hydroxysteroid 17-beta dehydrogenase 10 0.656 0.538 0.94
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 5316
Gene Symbol: PKNOX1
PKNOX1
PBX/knotted 1 homeobox 1 0.674 0.538 0.99
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.020 None 1.000 1 0 2003 2010
Entrez Id: 5686
Gene Symbol: PSMA5
PSMA5
proteasome 20S subunit alpha 5 0.674 0.538 0.99
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001