Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		55 14 26 0.30 12 0.57
CUI: C0014116
Disease: Endocardial Cushion Defects
Endocardial Cushion Defects 		71 0 26 0.25 0 0
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		48 0 12 0.13 0 0
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		88 0 15 0.11 0 0
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		62 0 12 0.11 0 0
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		61 0 11 0.10 0 0
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		51 0 10 0.10 0 0
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		52 0 9 8.9E-02 0 0
CUI: C1834060
Disease: Short middle phalanx of the 5th finger
Short middle phalanx of the 5th finger 		17 0 6 8.7E-02 0 0
CUI: C3495549
Disease: Patent ductus arteriosus - persisting type
Patent ductus arteriosus - persisting type 		30 0 7 8.6E-02 0 0
CUI: C0344735
Disease: Partial atrioventricular canal
Partial atrioventricular canal 		9 0 5 8.1E-02 0 0
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		267 0 24 8.0E-02 0 0
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		37 0 7 8.0E-02 0 0
CUI: C0392482
Disease: Common atrium
Common atrium 		11 0 5 7.8E-02 0 0
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		40 0 7 7.7E-02 0 0
CUI: C1865343
Disease: OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE 		26 0 6 7.7E-02 0 0
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		55 9 8 7.6E-02 4 0.17
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		13 0 5 7.6E-02 0 0
CUI: C0578038
Disease: Thin lips
Thin lips 		99 8 11 7.5E-02 1 3.8E-02
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		28 0 6 7.5E-02 0 0
CUI: C0018808
Disease: Heart murmur
Heart murmur 		31 0 6 7.2E-02 0 0
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		76 0 9 7.2E-02 0 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		274 0 22 7.1E-02 0 0
CUI: C1867131
Disease: Broad hallux
Broad hallux 		48 0 7 7.1E-02 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		34 0 6 7.0E-02 0 0