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 7.4E-03 0 0
2-oxo-hept-3-ene-1,7-dioate hydratase activity
14 0 4 6.6E-02 0 0
3 beta-Hydroxysteroid dehydrogenase deficiency
9 0 1 1.7E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 1 1.3E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 1 1.3E-02 0 0
CUI: C2752149
Disease: 46,XY Sex Reversal 4
46,XY Sex Reversal 4
1 0 1 2.0E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 1 1.1E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 1 6.5E-03 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating
10 0 1 1.7E-02 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism
8 0 1 1.7E-02 0 0
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection
23 0 1 1.4E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 3 8.6E-03 0 0
CUI: C1141926
Disease: Abdominal sepsis
Abdominal sepsis
18 0 1 1.5E-02 0 0
CUI: C0232498
Disease: Abdominal tenderness
Abdominal tenderness
2 0 1 1.9E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
65 0 2 1.8E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
41 0 1 1.1E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 8 8.4E-03 0 0
CUI: C4025630
Disease: Abnormal bone structure
Abnormal bone structure
7 0 3 5.5E-02 0 0
Abnormal brain FDG positron emission tomography
18 0 1 1.5E-02 0 0
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing
5 0 1 1.8E-02 0 0
Abnormal circle of Willis morphology
4 0 1 1.9E-02 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination
9 0 1 1.7E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 1 9.2E-03 0 0
Abnormal delayed hypersensitivity skin test
1 0 1 2.0E-02 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology
11 0 1 1.6E-02 0 0