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: 1808
Gene Symbol: DPYSL2
DPYSL2
dihydropyrimidinase like 2 0.585 0.692 0.99
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.020 None 1.000 1 0 1999 2001
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
NADH:ubiquinone oxidoreductase core subunit S3 0.581 0.769 5.8E-04
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
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: 3925
Gene Symbol: STMN1
STMN1
stathmin 1 0.458 0.885 7.5E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
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
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: 6950
Gene Symbol: TCP1
TCP1
t-complex 1 0.619 0.654 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 8078
Gene Symbol: USP5
USP5
ubiquitin specific peptidase 5 0.670 0.577 0.96
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 3181
Gene Symbol: HNRNPA2B1
HNRNPA2B1
heterogeneous nuclear ribonucleoprotein A2/B1 0.566 0.808 1.00
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: 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: 1139
Gene Symbol: CHRNA7
CHRNA7
cholinergic receptor nicotinic alpha 7 subunit 0.532 0.654 4.2E-04
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
cholinergic receptor nicotinic alpha 4 subunit 0.492 0.808 8.5E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
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: 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: 3094
Gene Symbol: HINT1
HINT1
histidine triad nucleotide binding protein 1 0.619 0.577 1.8E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1136
Gene Symbol: CHRNA3
CHRNA3
cholinergic receptor nicotinic alpha 3 subunit 0.588 0.692 1.4E-07
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 10989
Gene Symbol: IMMT
IMMT
inner membrane mitochondrial protein 0.576 0.846 1.3E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.020 None 1.000 1 0 1998 2002
Entrez Id: 10399
Gene Symbol: RACK1
RACK1
receptor for activated C kinase 1 0.545 0.808 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 4831
Gene Symbol: NME2
NME2
NME/NM23 nucleoside diphosphate kinase 2 0.573 0.731 8.8E-09
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
heat shock protein family D (Hsp60) member 1 0.432 0.808 0.99
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2002 2002
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: 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: 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: 10578
Gene Symbol: GNLY
GNLY
granulysin 0.584 0.692 9.7E-09
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2002 2002