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: C1853238
Disease: Conotruncal defect
Conotruncal defect 		51 45 9 0.16 9 0.16
CUI: C0345065
Disease: Cervical aortic arch
Cervical aortic arch 		2 0 2 0.15 0 0
CUI: C4023910
Disease: Aplasia/Hypoplasia of the diaphragm
Aplasia/Hypoplasia of the diaphragm 		2 0 2 0.15 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		34 0 6 0.15 0 0
CUI: C0729198
Disease: Decreased circulating parathyroid hormone level
Decreased circulating parathyroid hormone level 		4 0 2 0.13 0 0
CUI: C3150966
Disease: Supernumerary der(22)t(8;22) syndrome
Supernumerary der(22)t(8;22) syndrome 		4 0 2 0.13 0 0
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		40 0 6 0.13 0 0
CUI: C0158629
Disease: Congenital anomaly of aortic arch
Congenital anomaly of aortic arch 		5 0 2 0.12 0 0
CUI: C1282979
Disease: Transient hypoparathyroidism
Transient hypoparathyroidism 		5 0 2 0.12 0 0
CUI: C0265291
Disease: Kenny-Caffey syndrome
Kenny-Caffey syndrome 		6 0 2 0.12 0 0
CUI: C1836929
Disease: Emanuel syndrome
Emanuel syndrome 		6 0 2 0.12 0 0
CUI: C0019296
Disease: Inguinal Hernia, Indirect
Inguinal Hernia, Indirect 		7 0 2 0.11 0 0
CUI: C0744669
Disease: Complex congenital heart disease
Complex congenital heart disease 		7 0 2 0.11 0 0
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		48 16 6 0.11 3 8.6E-02
CUI: C1846433
Disease: Prominent sternum
Prominent sternum 		8 0 2 0.11 0 0
CUI: C0685707
Disease: Muscular ventricular septum defect
Muscular ventricular septum defect 		9 0 2 1.0E-01 0 0
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		53 0 6 1.0E-01 0 0
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		22 0 3 9.4E-02 0 0
CUI: C0392482
Disease: Common atrium
Common atrium 		11 0 2 9.1E-02 0 0
CUI: C4721567
Disease: Theca cell tumor of ovary
Theca cell tumor of ovary 		11 0 2 9.1E-02 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 2 8.7E-02 0 0
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		13 1 2 8.3E-02 1 4.5E-02
CUI: C0003910
Disease: Articulation Disorders
Articulation Disorders 		1 0 1 7.7E-02 0 0
CUI: C0238415
Disease: SCLERODERMA, PULMONARY
SCLERODERMA, PULMONARY 		1 0 1 7.7E-02 0 0
CUI: C0265809
Disease: Double outlet left ventricle
Double outlet left ventricle 		1 0 1 7.7E-02 0 0