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 4 2.4E-02 0 0
2-oxo-hept-3-ene-1,7-dioate hydratase activity
14 0 1 1.0E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
15 0 1 1.0E-02 0 0
2nd-5th toe middle phalangeal hypoplasia
2 0 1 1.2E-02 0 0
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome
4 0 4 4.8E-02 0 0
2p21 microdeletion syndrome without cystinuria
2 0 2 2.4E-02 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly
3 0 1 1.2E-02 0 0
CUI: C4304527
Disease: 6q25 microdeletion syndrome
6q25 microdeletion syndrome
1 0 1 1.2E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 1 8.1E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 1 5.4E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 18 3 7.9E-03 2 6.1E-02
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy
8 0 1 1.1E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
65 0 1 6.8E-03 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon
20 0 1 9.8E-03 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
41 0 1 8.1E-03 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology
29 0 4 3.7E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 12 1.2E-02 0 0
Abnormal brain FDG positron emission tomography
18 0 1 1.0E-02 0 0
Abnormal cardiac ventricle morphology
2 0 1 1.2E-02 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology
32 0 1 8.8E-03 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement
7 0 1 1.1E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 1 7.1E-03 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology
9 0 2 2.2E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 10 5 3.4E-02 1 3.8E-02
Abnormal cricoid cartilage morphology
1 0 1 1.2E-02 0 0