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 2.0E-02 0 0
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated
1 0 1 2.4E-02 0 0
17-Alpha-Hydroxylase/17,20 Lyase Deficiency
4 0 1 2.2E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 1 7.9E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 4 4.3E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
31 0 1 1.4E-02 0 0
3 beta-Hydroxysteroid dehydrogenase deficiency
9 0 1 2.0E-02 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly
3 0 1 2.3E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 1 1.5E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 7 9.1E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 1 6.9E-03 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism
8 0 1 2.0E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 5 1.5E-02 0 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom
17 0 1 1.7E-02 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness
9 0 2 4.1E-02 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy
8 0 2 4.2E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 2 2.1E-03 0 0
Abnormal best corrected visual acuity test
2 0 1 2.3E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 5 4.5E-02 0 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level
14 0 1 1.8E-02 0 0
CUI: C4025680
Disease: Abnormal cartilage morphology
Abnormal cartilage morphology
2 0 1 2.3E-02 0 0
CUI: C0857898
Disease: Abnormal circulating aldosterone
Abnormal circulating aldosterone
2 0 2 4.8E-02 0 0
CUI: C4021038
Disease: Abnormal circulating renin
Abnormal circulating renin
5 0 1 2.2E-02 0 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology
16 0 1 1.8E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 1 1.0E-02 0 0