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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
20 0 1 2.1E-02 0 0
3 beta-Hydroxysteroid dehydrogenase deficiency
9 0 1 2.7E-02 0 0
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
1 0 1 3.4E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 1 1.4E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 3 2.3E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 1 3.0E-03 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy
8 0 1 2.8E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
41 0 1 1.4E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 5 5.4E-03 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation
12 0 1 2.5E-02 0 0
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing
5 0 1 3.0E-02 0 0
CUI: C4021847
Disease: Abnormal cartilage collagen
Abnormal cartilage collagen
1 0 1 3.4E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 1 1.6E-02 0 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility
9 0 1 2.7E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology
41 0 3 4.5E-02 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology
11 0 1 2.6E-02 0 0
CUI: C4025628
Disease: Abnormal enchondral ossification
Abnormal enchondral ossification
4 0 2 6.5E-02 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology
29 0 1 1.8E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
39 0 1 1.5E-02 0 0
CUI: C4021241
Disease: Abnormal foot bone ossification
Abnormal foot bone ossification
3 0 1 3.2E-02 0 0
Abnormal form of the vertebral bodies
89 0 6 5.4E-02 0 0
CUI: C0263634
Disease: Abnormal granulation tissue
Abnormal granulation tissue
6 0 1 2.9E-02 0 0
CUI: C4021244
Disease: Abnormal hand bone ossification
Abnormal hand bone ossification
2 0 1 3.3E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
42 0 2 2.9E-02 0 0
CUI: C1855755
Disease: Abnormal immunoglobulin level
Abnormal immunoglobulin level
6 0 1 2.9E-02 0 0