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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 1 6.0E-03 0 0
2-oxo-hept-3-ene-1,7-dioate hydratase activity
14 0 1 1.1E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 3 2.2E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
31 0 1 8.9E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development
6 0 1 1.1E-02 0 0
46, XX Testicular Disorders of Sex Development
11 0 2 2.2E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
29 0 2 1.8E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 2 1.9E-02 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4
3 0 1 1.2E-02 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
11 0 2 2.2E-02 0 0
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3
3 0 1 1.2E-02 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome
9 0 1 1.1E-02 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome
1 0 1 1.2E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 1 5.4E-03 0 0
CUI: C0270858
Disease: Abdominal Migraine
Abdominal Migraine
9 0 1 1.1E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 2 5.2E-03 0 0
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci
7 0 1 1.1E-02 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon
20 0 1 9.9E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 27 2.8E-02 0 0
CUI: C4023161
Disease: Abnormal bone ossification
Abnormal bone ossification
3 0 1 1.2E-02 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS
2 0 1 1.2E-02 0 0
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing
5 0 1 1.2E-02 0 0
CUI: C4025680
Disease: Abnormal cartilage morphology
Abnormal cartilage morphology
2 0 1 1.2E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
39 0 1 8.3E-03 0 0
CUI: C0266652
Disease: Abnormal fetus
Abnormal fetus
2 0 1 1.2E-02 0 0