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: 117581
Gene Symbol: TWIST2
TWIST2
twist family bHLH transcription factor 2 0.518 0.731 0.56
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.730 strong 1.000 4 1 1963 2019
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
hypoxia inducible factor 1 subunit alpha 0.327 0.923 0.98
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.050 None 1.000 5 0 2010 2019
Entrez Id: 1636
Gene Symbol: ACE
ACE
angiotensin I converting enzyme 0.328 0.923 1.0E-37
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.040 None 0.750 4 1 2002 2012
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.030 None 1.000 3 4 2000 2019
Entrez Id: 29072
Gene Symbol: SETD2
SETD2
SET domain containing 2, histone lysine methyltransferase 0.424 0.846 1.00
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.030 None 1.000 3 0 2011 2018
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
egl-9 family hypoxia inducible factor 1 0.540 0.731 0.97
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.030 None 1.000 3 4 2012 2018
Entrez Id: 4846
Gene Symbol: NOS3
NOS3
nitric oxide synthase 3 0.378 0.885 6.7E-07
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.020 None 1.000 2 1 2009 2010
Entrez Id: 2056
Gene Symbol: EPO
EPO
erythropoietin 0.381 0.885 1.1E-02
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.020 None 1.000 2 0 2010 2019
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
endothelial PAS domain protein 1 0.454 0.731 0.60
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.020 None 1.000 2 1 2012 2016
Entrez Id: 4303
Gene Symbol: FOXO4
FOXO4
forkhead box O4 0.588 0.769 0.81
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
nuclear factor, erythroid 2 like 2 0.357 0.885 3.6E-03
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
MDM2 proto-oncogene 0.362 0.846 1.00
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5511
Gene Symbol: PPP1R8
PPP1R8
protein phosphatase 1 regulatory subunit 8 0.722 0.385 0.99
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4155
Gene Symbol: MBP
MBP
myelin basic protein 0.510 0.885 0.28
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 8260
Gene Symbol: NAA10
NAA10
N-alpha-acetyltransferase 10, NatA catalytic subunit 0.535 0.692 0.76
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 55662
Gene Symbol: HIF1AN
HIF1AN
hypoxia inducible factor 1 subunit alpha inhibitor 0.656 0.462 7.4E-02
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 623
Gene Symbol: BDKRB1
BDKRB1
bradykinin receptor B1 0.619 0.731 4.7E-03
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 624
Gene Symbol: BDKRB2
BDKRB2
bradykinin receptor B2 0.585 0.808 0.12
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.010 None 1.000 1 1 2010 2010
Entrez Id: 6303
Gene Symbol: SAT1
SAT1
spermidine/spermine N1-acetyltransferase 1 0.539 0.808 0.87
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6355
Gene Symbol: CCL8
CCL8
C-C motif chemokine ligand 8 0.546 0.692 4.1E-02
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
secreted phosphoprotein 1 0.353 0.885 2.1E-06
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 406949
Gene Symbol: MIR15B
MIR15B
microRNA 15b 0.532 0.769
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 406927
Gene Symbol: MIR136
MIR136
microRNA 136 0.584 0.731
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 406924
Gene Symbol: MIR134
MIR134
microRNA 134 0.542 0.769
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.010 None 1.000 1 0 2019 2019