Source: CLINVAR

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: 4594
Gene Symbol: MMUT
MMUT 		methylmalonyl-CoA mutase 0.534 0.731 1.7E-22
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.100 None 0 1
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.100 None 0 2
Entrez Id: 388650
Gene Symbol: DIPK1A
DIPK1A 		divergent protein kinase domain 1A 0.743 0.423 0.58
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.100 None 0 1
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.100 None 1.000 2 2 2004 2008
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.110 None 1.000 0 1 2011 2011
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		GATA binding protein 6 0.478 0.808 1.00
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.110 None 1.000 1 1 2010 2014
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		T-box transcription factor 5 0.528 0.769 1.00
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.150 None 1.000 0 1 1999 2014
Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B 		transmembrane protein 87B 0.861 0.115 3.7E-13
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.110 None 1.000 1 1 2015 2016
Entrez Id: 23498
Gene Symbol: HAAO
HAAO 		3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.100 None 1.000 1 1 2017 2017
Entrez Id: 25
Gene Symbol: ABL1
ABL1 		ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.100 None 1.000 1 1 2017 2017