Source: ORPHANET

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: 4624
Gene Symbol: MYH6
MYH6 		myosin heavy chain 6 0.581 0.615 1.6E-32
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		disease 0.600 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: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		disease 0.430 None 1.000 2 0 2003 2017
Entrez Id: 2626
Gene Symbol: GATA4
GATA4 		GATA binding protein 4 0.458 0.846 0.49
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		disease 0.410 None 1.000 3 0 2003 2011
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		GATA binding protein 6 0.478 0.808 1.00
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		disease 0.400 None 1.000 1 0 2010 2010
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		actin alpha cardiac muscle 1 0.610 0.538 0.74
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		disease 0.310 None 1.000 1 0 2008 2016
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: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		disease 0.300 None 1.000 1 0 2005 2005
Entrez Id: 57057
Gene Symbol: TBX20
TBX20 		T-box transcription factor 20 0.663 0.346 0.97
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 7092
Gene Symbol: TLL1
TLL1 		tolloid like 1 0.716 0.500 0.17
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		disease 0.300 None 1.000 1 0 2009 2009