Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CONOTRUNCAL HEART MALFORMATIONS (disorder)
13 22 9 0.16 9 0.16
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle
48 16 10 0.11 3 5.2E-02
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent
76 0 12 0.10 0 0
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect
58 0 10 0.10 0 0
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
70 8 11 1.0E-01 3 6.0E-02
CUI: C0741916
Disease: Cardiac defects
Cardiac defects
62 0 10 9.7E-02 0 0
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple
40 0 8 9.6E-02 0 0
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
55 0 9 9.3E-02 0 0
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome
61 21 9 8.7E-02 2 3.1E-02
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic
26 2 6 8.5E-02 1 2.2E-02
CUI: C0158629
Disease: Congenital anomaly of aortic arch
Congenital anomaly of aortic arch
5 0 4 7.7E-02 0 0
Congenital atresia of pulmonary artery
19 0 5 7.7E-02 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology
34 0 6 7.6E-02 0 0
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
267 80 22 7.4E-02 5 4.2E-02
CUI: C0019296
Disease: Inguinal Hernia, Indirect
Inguinal Hernia, Indirect
7 0 4 7.4E-02 0 0
CUI: C0266427
Disease: Testicular regression syndrome
Testicular regression syndrome
37 0 6 7.3E-02 0 0
Ostium secundum atrial septal defect
37 10 6 7.3E-02 1 1.9E-02
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
111 7 11 7.3E-02 2 4.0E-02
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
406 58 31 7.3E-02 4 4.0E-02
Neural tube defect, folate-sensitive
8 0 4 7.3E-02 0 0
CUI: C4275242
Disease: Sudden sensorineural hearing loss
Sudden sensorineural hearing loss
72 38 8 7.0E-02 3 3.7E-02
Congenital atresia of pulmonary valve
11 0 4 6.9E-02 0 0
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
12 0 4 6.8E-02 0 0
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
61 18 7 6.7E-02 3 5.0E-02
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch
13 0 4 6.7E-02 0 0