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: 2626
Gene Symbol: GATA4
GATA4
GATA binding protein 4 0.458 0.846 0.49
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.450 None 1.000 5 0 2007 2017
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
GATA binding protein 6 0.478 0.808 1.00
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.410 None 1.000 1 0 2017 2017
Entrez Id: 78987
Gene Symbol: CRELD1
CRELD1
cysteine rich with EGF like domains 1 0.670 0.269 1.3E-11
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.180 None 0.875 8 5 2003 2018
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
T-box transcription factor 5 0.528 0.769 1.00
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.130 None 1.000 3 1 2004 2018
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.120 None 1.000 2 0 2003 2020
Entrez Id: 7026
Gene Symbol: NR2F2
NR2F2
nuclear receptor subfamily 2 group F member 2 0.575 0.692 0.99
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.120 None 1.000 2 0 2014 2018
Entrez Id: 2121
Gene Symbol: EVC
EVC
EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.110 None 1.000 1 0 2009 2009
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.110 None 1.000 1 0 2009 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.110 None 1.000 1 0 2005 2005
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
NK2 homeobox 5 0.533 0.692 0.95
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.040 None 1.000 4 1 2004 2014
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.030 None 1.000 3 0 2013 2017
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.020 None 1.000 2 0 2012 2019
Entrez Id: 7446
Gene Symbol: AVSD1
AVSD1
atrioventricular septal defect 1 0.751 0.192
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.020 None 1.000 2 0 2017 2017
Entrez Id: 23493
Gene Symbol: HEY2
HEY2
hes related family bHLH transcription factor with YRPW motif 2 0.572 0.731 0.89
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.020 None 1.000 2 0 2006 2012
Entrez Id: 1950
Gene Symbol: EGF
EGF
epidermal growth factor 0.357 0.923 8.5E-17
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.020 None 1.000 2 1 2004 2010
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.010 None 1.000 1 1 2018 2018
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
solute carrier family 19 member 1 0.523 0.692 6.5E-06
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 8100
Gene Symbol: IFT88
IFT88
intraflagellar transport 88 0.621 0.654 7.1E-11
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
activin A receptor type 1 0.535 0.731 0.33
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 11020
Gene Symbol: IFT27
IFT27
intraflagellar transport 27 0.670 0.462 5.9E-06
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 55349
Gene Symbol: CHDH
CHDH
choline dehydrogenase 0.529 0.769 1.7E-06
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 132001
Gene Symbol: TAMM41
TAMM41
TAM41 mitochondrial translocator assembly and maintenance homolog 0.890 0.077 1.1E-06
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1636
Gene Symbol: ACE
ACE
angiotensin I converting enzyme 0.328 0.923 1.0E-37
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease 0.010 None 1.000 1 0 2011 2011