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: C4518822
Disease: 17q12 microdeletion syndrome
17q12 microdeletion syndrome
1 0 1 5.0E-02 0 0
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis
6 0 1 4.0E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
15 0 1 2.9E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 2 1.7E-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 2.7E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 4 4.3E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 1 1.1E-02 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation
12 0 1 3.2E-02 0 0
Abnormal brain FDG positron emission tomography
18 0 2 5.6E-02 0 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level
14 0 8 0.31 0 0
CUI: C1847425
Disease: Abnormal oral glucose tolerance
Abnormal oral glucose tolerance
15 0 8 0.30 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology
35 0 1 1.9E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
115 0 1 7.5E-03 0 0
Abnormality of alkaline phosphatase activity
1 0 1 5.0E-02 0 0
Abnormality of endocrine pancreas physiology
4 0 2 9.1E-02 0 0
Abnormality of exocrine pancreas physiology
3 0 2 9.5E-02 0 0
Abnormality of the autonomic nervous system
3 0 1 4.5E-02 0 0
CUI: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system
34 0 5 0.10 0 0
CUI: C4316788
Disease: Abnormality of the intestine
Abnormality of the intestine
19 0 1 2.6E-02 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis
97 0 1 8.6E-03 0 0
Abnormality of the pancreatic islet cells
6 0 2 8.3E-02 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
85 0 1 9.6E-03 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
148 0 1 6.0E-03 0 0
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
111 0 1 7.7E-03 0 0