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: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
7 0 1 8.0E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 2 9.9E-03 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly
2 0 1 8.3E-03 0 0
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6
1 0 1 8.4E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 5 2.3E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
231 0 22 6.7E-02 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness
9 0 1 7.9E-03 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology
29 0 8 5.7E-02 0 0
Abnormal atrioventricular conduction
7 0 1 8.0E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
97 0 1 4.7E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 2 1.0E-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: C4025680
Disease: Abnormal cartilage morphology
Abnormal cartilage morphology
2 0 1 8.3E-03 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology
6 0 3 2.5E-02 0 0
CUI: C4476724
Disease: Abnormal cellular phenotype
Abnormal cellular phenotype
4 0 1 8.2E-03 0 0
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision
5 0 1 8.1E-03 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
16 0 2 1.5E-02 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
42 0 2 1.3E-02 0 0
Abnormal electrophysiology of sinoatrial node origin
1 0 1 8.4E-03 0 0
CUI: C4021662
Disease: Abnormal endocardium morphology
Abnormal endocardium morphology
23 0 2 1.4E-02 0 0
CUI: C4025825
Disease: Abnormal external genitalia
Abnormal external genitalia
2 0 1 8.3E-03 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 1 6.4E-03 0 0
Abnormal form of the vertebral bodies
89 0 4 2.0E-02 0 0