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: 4830
Gene Symbol: NME1
NME1
NME/NM23 nucleoside diphosphate kinase 1 0.443 0.808 3.2E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 63976
Gene Symbol: PRDM16
PRDM16
PR/SET domain 16 0.522 0.808 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
synaptosome associated protein 25 0.489 0.808 0.99
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 8209
Gene Symbol: GATD3A
GATD3A
glutamine amidotransferase like class 1 domain containing 3A 0.619 0.654 3.0E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2004 2004
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: 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: 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: 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: 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: 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: 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: 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: 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: 361
Gene Symbol: AQP4
AQP4
aquaporin 4 0.456 0.885 2.3E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2008 2008
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: 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: 4684
Gene Symbol: NCAM1
NCAM1
neural cell adhesion molecule 1 0.415 0.885 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
p21 (RAC1) activated kinase 1 0.494 0.808 1.3E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2004 2004
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: 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: 4128
Gene Symbol: MAOA
MAOA
monoamine oxidase A 0.465 0.769 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2007 2007
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: 3856
Gene Symbol: KRT8
KRT8
keratin 8 0.517 0.654 2.4E-08
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2008 2008
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: 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