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: 4087
Gene Symbol: SMAD2
SMAD2
SMAD family member 2 0.456 0.808 1.00
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.310 limited 1.000 2 0 2009 2013
Entrez Id: 93649
Gene Symbol: MYOCD
MYOCD
myocardin 0.619 0.615 0.33
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.310 strong 1.000 2 1 2008 2019
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
GATA binding protein 4 0.458 0.846 0.49
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.200 None 1.000 40 26 1998 2019
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.110 None 1.000 1 2 2017 2017
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
NK2 homeobox 5 0.533 0.692 0.95
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.100 None 0.971 35 9 1998 2020
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.100 None 1.000 19 4 2001 2018
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
T-box transcription factor 5 0.528 0.769 1.00
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.100 None 1.000 16 1 2002 2019
Entrez Id: 57057
Gene Symbol: TBX20
TBX20
T-box transcription factor 20 0.663 0.346 0.97
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.100 None 1.000 14 2 2007 2018
Entrez Id: 55349
Gene Symbol: CHDH
CHDH
choline dehydrogenase 0.529 0.769 1.7E-06
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.100 None 1.000 13 0 2013 2019
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
POC1 centriolar protein B 0.705 0.385 3.0E-08
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.100 None 1.000 3 1 2014 2014
Entrez Id: 100507266
Gene Symbol: STX18-AS1
STX18-AS1
STX18 antisense RNA 1 (head to head) 0.890 0.154
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.100 None 1.000 1 3 2013 2013
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.100 None 0 1
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24
zinc finger DHHC-type containing 24 0.722 0.462 4.2E-04
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.100 None 0 1
Entrez Id: 10370
Gene Symbol: CITED2
CITED2
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 0.576 0.654 0.76
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.070 None 1.000 7 1 2011 2020
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.070 None 1.000 7 4 2004 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.060 None 1.000 6 0 2005 2014
Entrez Id: 3670
Gene Symbol: ISL1
ISL1
ISL LIM homeobox 1 0.579 0.654 0.87
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.060 None 1.000 6 1 2010 2015
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.060 None 1.000 6 0 1995 2018
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
bone morphogenetic protein receptor type 2 0.538 0.654 1.00
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.060 None 1.000 6 0 2003 2016
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
Zic family member 3 0.587 0.423 0.92
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.050 None 1.000 5 0 2004 2018
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
GATA binding protein 6 0.478 0.808 1.00
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.050 None 1.000 5 0 2010 2018
Entrez Id: 9464
Gene Symbol: HAND2
HAND2
heart and neural crest derivatives expressed 2 0.612 0.500 0.40
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.050 None 1.000 5 0 1999 2016
Entrez Id: 9421
Gene Symbol: HAND1
HAND1
heart and neural crest derivatives expressed 1 0.686 0.308 0.11
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.050 None 1.000 5 0 1999 2016
Entrez Id: 4548
Gene Symbol: MTR
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase 0.482 0.808 2.4E-12
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.040 None 1.000 4 0 2004 2019
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.502 0.808 2.2E-14
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group 0.040 None 1.000 4 2 2012 2018