Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Congenital defect of skull and scalp
6 0 6 0.32 0 0
CUI: C3553754
Disease: Absent toe
Absent toe
8 0 6 0.29 0 0
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome
9 0 6 0.27 0 0
Congenital atresia of pulmonary valve
11 3 5 0.20 2 0.33
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1
17 0 6 0.20 0 0
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand
18 0 6 0.19 0 0
CUI: C0426868
Disease: Absence of hand
Absence of hand
18 0 6 0.19 0 0
CUI: C1844554
Disease: Absent fingernail
Absent fingernail
19 0 6 0.19 0 0
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect
22 0 6 0.17 0 0
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail
23 0 6 0.17 0 0
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle
48 16 9 0.16 1 5.0E-02
CUI: C0392482
Disease: Common atrium
Common atrium
11 0 4 0.15 0 0
CUI: C4082172
Disease: Porencephalic cyst
Porencephalic cyst
28 0 6 0.15 0 0
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail
30 0 6 0.14 0 0
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly
34 0 6 0.13 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve
40 0 6 0.11 0 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones
40 0 6 0.11 0 0
CUI: C0035615
Disease: Right aortic arch (disorder)
Right aortic arch (disorder)
4 1 2 9.5E-02 1 0.20
CUI: C0344622
Disease: Double inlet left ventricle
Double inlet left ventricle
4 0 2 9.5E-02 0 0
Partial defect of atrioventricular canal
4 0 2 9.5E-02 0 0
CUI: C4531220
Disease: Coronary sinus enlargement
Coronary sinus enlargement
4 0 2 9.5E-02 0 0
Gastrointestinal vascular malformation
5 0 2 9.1E-02 0 0
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
55 0 6 8.8E-02 0 0
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices
56 0 6 8.7E-02 0 0
CUI: C3178807
Disease: Left Atrial Isomerism
Left Atrial Isomerism
6 0 2 8.7E-02 0 0