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: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
10 0 1 1.7E-02 0 0
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis
6 0 1 1.8E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 1 7.4E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 2 1.9E-02 0 0
5,10-Methylenetetrahydrofolate reductase deficiency
6 0 1 1.8E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 0 2 2.3E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 1 6.5E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 5 1.4E-02 0 0
CUI: C1141926
Disease: Abdominal sepsis
Abdominal sepsis
18 0 1 1.5E-02 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon
20 0 1 1.4E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
41 0 2 2.2E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 9 9.5E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 1 8.0E-03 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation
12 0 1 1.6E-02 0 0
CUI: C0159060
Disease: Abnormal bowel sounds
Abnormal bowel sounds
5 0 1 1.8E-02 0 0
Abnormal cardiac ventricular function
6 0 1 1.8E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 1 9.2E-03 0 0
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity
13 0 1 1.6E-02 0 0
Abnormal liver parenchyma morphology
4 0 1 1.9E-02 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology
30 0 2 2.5E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
49 0 1 1.0E-02 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration
20 0 1 1.4E-02 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function
21 0 1 1.4E-02 0 0
CUI: C0855742
Disease: Abnormal platelet morphology
Abnormal platelet morphology
10 0 1 1.7E-02 0 0
CUI: C4022866
Disease: Abnormal platelet shape
Abnormal platelet shape
1 0 1 2.0E-02 0 0