Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
2-oxo-hept-3-ene-1,7-dioate hydratase activity
14 0 1 1.2E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 1 8.1E-03 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
31 0 9 9.8E-02 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome
12 0 9 0.12 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 1 1.0E-02 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome
4 0 1 1.4E-02 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome
1 0 1 1.4E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 0 2 1.9E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 4 2.4E-02 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating
10 0 1 1.3E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 21 6.0E-02 0 0
CUI: C1141926
Disease: Abdominal sepsis
Abdominal sepsis
18 0 1 1.1E-02 0 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom
17 0 1 1.2E-02 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon
20 0 1 1.1E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
41 0 1 9.1E-03 0 0
CUI: C4021208
Disease: Abnormal B cell count
Abnormal B cell count
2 0 2 2.9E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 10 1.0E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 2 1.4E-02 0 0
CUI: C0159060
Disease: Abnormal bowel sounds
Abnormal bowel sounds
5 0 5 7.1E-02 0 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level
14 0 2 2.4E-02 0 0
Abnormal cardiac ventricular function
6 0 1 1.3E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 3 2.4E-02 0 0
Abnormal delayed hypersensitivity skin test
1 0 1 1.4E-02 0 0
CUI: C0855999
Disease: Abnormal eosinophil morphology
Abnormal eosinophil morphology
3 0 2 2.8E-02 0 0
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology
2 0 1 1.4E-02 0 0