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: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
31 0 1 2.5E-02 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome
12 0 1 4.8E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 1 2.0E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 1 8.9E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 2 2.2E-03 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology
41 0 1 2.0E-02 0 0
CUI: C4021241
Disease: Abnormal foot bone ossification
Abnormal foot bone ossification
3 0 1 8.3E-02 0 0
Abnormal form of the vertebral bodies
89 0 1 1.0E-02 0 0
CUI: C4021244
Disease: Abnormal hand bone ossification
Abnormal hand bone ossification
2 0 1 9.1E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
42 0 1 2.0E-02 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation
32 0 1 2.4E-02 0 0
CUI: C4023026
Disease: Abnormal megakaryocyte morphology
Abnormal megakaryocyte morphology
10 0 2 0.11 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology
19 0 1 3.6E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
58 0 1 1.5E-02 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function
21 2 1 3.3E-02 1 0.33
CUI: C0855742
Disease: Abnormal platelet morphology
Abnormal platelet morphology
10 1 2 0.11 1 0.50
CUI: C4022866
Disease: Abnormal platelet shape
Abnormal platelet shape
1 1 1 1.0E-01 1 0.50
CUI: C4025731
Disease: Abnormal thrombosis
Abnormal thrombosis
13 0 1 4.5E-02 0 0
Abnormal vertebral segmentation and fusion
11 0 1 5.0E-02 0 0
Abnormalities of placenta or umbilical cord
1 0 1 1.0E-01 0 0
CUI: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch
13 0 1 4.5E-02 0 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve
50 0 1 1.7E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
104 0 1 8.8E-03 0 0
Abnormality of cardiovascular system morphology
198 0 1 4.8E-03 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
96 0 1 9.5E-03 0 0