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: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 35 3.5E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 15 8.3E-02 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation
12 0 2 1.5E-02 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS
2 0 1 8.3E-03 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology
32 0 8 5.6E-02 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology
12 0 3 2.3E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 2 1.3E-02 0 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology
16 0 1 7.4E-03 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 2 1.1E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
17 0 1 7.4E-03 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
44 0 10 6.5E-02 0 0
CUI: C4021662
Disease: Abnormal endocardium morphology
Abnormal endocardium morphology
23 0 14 0.11 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology
29 0 2 1.4E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
39 0 2 1.3E-02 0 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology
10 0 2 1.6E-02 0 0
Abnormal form of the vertebral bodies
89 0 9 4.5E-02 0 0
CUI: C0263634
Disease: Abnormal granulation tissue
Abnormal granulation tissue
6 0 1 8.0E-03 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity
29 0 1 6.8E-03 0 0
CUI: C4025109
Disease: Abnormal hand morphology
Abnormal hand morphology
5 0 1 8.1E-03 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
42 0 3 1.9E-02 0 0
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology
4 0 2 1.6E-02 0 0
CUI: C1855755
Disease: Abnormal immunoglobulin level
Abnormal immunoglobulin level
6 0 2 1.6E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements
6 0 1 8.0E-03 0 0
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement
22 0 1 7.1E-03 0 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney
40 0 1 6.3E-03 0 0