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 3.7E-02 0 0
CUI: C0852698
Disease: 17,20-desmolase deficiency
17,20-desmolase deficiency
1 0 1 5.6E-02 0 0
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated
1 0 1 5.6E-02 0 0
17-Alpha-Hydroxylase/17,20 Lyase Deficiency
4 0 2 1.0E-01 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 6 9.0E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
31 0 1 2.1E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
15 0 1 3.1E-02 0 0
3 beta-Hydroxysteroid dehydrogenase deficiency
9 0 2 8.0E-02 0 0
46, XX Testicular Disorders of Sex Development
11 0 1 3.6E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
29 0 3 6.8E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 2 4.9E-02 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency
8 0 2 8.3E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 0 1 1.8E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 1 1.7E-02 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism
8 0 1 4.0E-02 0 0
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection
23 0 1 2.5E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 1 3.1E-03 0 0
CUI: C1141926
Disease: Abdominal sepsis
Abdominal sepsis
18 0 1 2.9E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
41 0 1 1.7E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 5 5.4E-03 0 0
CUI: C0857898
Disease: Abnormal circulating aldosterone
Abnormal circulating aldosterone
2 0 1 5.3E-02 0 0
CUI: C4025825
Disease: Abnormal external genitalia
Abnormal external genitalia
3 0 1 5.0E-02 0 0
CUI: C0266652
Disease: Abnormal fetus
Abnormal fetus
2 0 1 5.3E-02 0 0
CUI: C1847425
Disease: Abnormal oral glucose tolerance
Abnormal oral glucose tolerance
15 0 1 3.1E-02 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology
35 0 2 3.9E-02 0 0