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: 182
Gene Symbol: JAG1
JAG1
jagged canonical Notch ligand 1 0.429 0.808 1.00
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.430 None 0.857 7 1 1997 2013
Entrez Id: 2657
Gene Symbol: GDF1
GDF1
growth differentiation factor 1 0.529 0.692 0.41
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.430 None 1.000 4 2 1997 2017
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
zinc finger E-box binding homeobox 2 0.471 0.808 1.00
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.410 None 1.000 2 0 2005 2007
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.400 None 1.000 15 2 2001 2019
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.400 None 1.000 13 0 1996 2018
Entrez Id: 55534
Gene Symbol: MAML3
MAML3
mastermind like transcriptional coactivator 3 0.653 0.577 1.00
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.400 None 1.000 1 1 2013 2013
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.330 None 1.000 4 0 2006 2015
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
ATP binding cassette subfamily B member 1 0.344 0.885 1.3E-05
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.330 None 1.000 3 1 2011 2019
Entrez Id: 9464
Gene Symbol: HAND2
HAND2
heart and neural crest derivatives expressed 2 0.612 0.500 0.40
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.320 None 1.000 3 0 1998 2013
Entrez Id: 4624
Gene Symbol: MYH6
MYH6
myosin heavy chain 6 0.581 0.615 1.6E-32
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.320 None 1.000 3 0 2010 2017
Entrez Id: 196
Gene Symbol: AHR
AHR
aryl hydrocarbon receptor 0.410 0.923 1.00
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.320 None 1.000 3 0 2009 2020
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
regulator of calcineurin 1 0.572 0.808 1.7E-02
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.320 None 1.000 3 0 2004 2010
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
transforming growth factor beta 2 0.433 0.885 1.00
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.310 None 1.000 2 0 1997 2013
Entrez Id: 4879
Gene Symbol: NPPB
NPPB
natriuretic peptide B 0.513 0.808 9.9E-06
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.310 None 1.000 2 0 2005 2005
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
hypoxia inducible factor 1 subunit alpha 0.327 0.923 0.98
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.310 None 1.000 2 0 2007 2015
Entrez Id: 5460
Gene Symbol: POU5F1
POU5F1
POU class 5 homeobox 1 0.441 0.846 0.95
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.310 None 1.000 1 0 2015 2015
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
signaling receptor and transporter of retinol STRA6 0.597 0.731 1.5E-10
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.310 None 1.000 1 0 2007 2007
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.310 None 1.000 1 0 2017 2017
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
AF4/FMR2 family member 4 0.644 0.769 1.00
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.310 None 1.000 1 0 2015 2015
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
GATA binding protein 4 0.458 0.846 0.49
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.300 None 1.000 21 2 2003 2019
Entrez Id: 1889
Gene Symbol: ECE1
ECE1
endothelin converting enzyme 1 0.541 0.769 0.96
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.300 None 1.000 2 0 1998 1999
Entrez Id: 7055
Gene Symbol: THAS
THAS
thoracoabdominal syndrome 0.560 0.808
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.300 None 1.000 2 0 1985 1990
Entrez Id: 8295
Gene Symbol: TRRAP
TRRAP
transformation/transcription domain associated protein 0.572 0.692 1.00
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.300 None 1.000 2 0 2017 2018
Entrez Id: 10265
Gene Symbol: IRX5
IRX5
iroquois homeobox 5 0.623 0.846 0.97
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.300 None 1.000 1 0 2012 2012
Entrez Id: 3200
Gene Symbol: HOXA3
HOXA3
homeobox A3 0.695 0.538 0.94
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.300 None 1.000 1 0 1991 1991