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 8.6E-03 0 0
2-oxo-hept-3-ene-1,7-dioate hydratase activity
14 0 1 2.2E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 1 1.2E-02 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
20 0 1 2.0E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 2 2.7E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 0 1 1.4E-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 5 3.8E-02 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms
13 0 1 2.3E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 16 5.0E-02 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness
9 0 1 2.5E-02 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology
29 0 3 5.2E-02 0 0
Abnormal atrioventricular conduction
7 0 1 2.6E-02 0 0
Abnormal B-type natriuretic peptide level
1 0 1 3.1E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 13 1.4E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 1 9.4E-03 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology
32 0 3 4.9E-02 0 0
CUI: C4025680
Disease: Abnormal cartilage morphology
Abnormal cartilage morphology
2 0 1 3.0E-02 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology
12 0 1 2.3E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 1 1.5E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology
41 0 1 1.4E-02 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
44 0 1 1.3E-02 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology
29 0 1 1.7E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
39 0 2 2.9E-02 0 0
CUI: C4021241
Disease: Abnormal foot bone ossification
Abnormal foot bone ossification
3 0 1 2.9E-02 0 0