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: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
41 0 2 8.5E-03 0 0
CUI: C4021524
Disease: Abnormal adipose tissue morphology
Abnormal adipose tissue morphology
6 0 1 5.0E-03 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level
16 0 7 3.4E-02 0 0
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid
8 0 1 4.9E-03 0 0
Abnormal atrioventricular conduction
7 0 1 4.9E-03 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential
11 0 2 9.7E-03 0 0
Abnormal basal ganglia MRI signal intensity
7 0 1 4.9E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 29 2.7E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 7 2.6E-02 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation
12 0 2 9.7E-03 0 0
Abnormal brain FDG positron emission tomography
18 0 3 1.4E-02 0 0
Abnormal brainstem MRI signal intensity
5 0 3 1.5E-02 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology
32 0 1 4.4E-03 0 0
CUI: C4025680
Disease: Abnormal cartilage morphology
Abnormal cartilage morphology
2 0 1 5.1E-03 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology
9 0 1 4.9E-03 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology
12 0 2 9.7E-03 0 0
CUI: C4021520
Disease: Abnormal cerebral artery morphology
Abnormal cerebral artery morphology
3 0 1 5.0E-03 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 1 4.3E-03 0 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology
16 0 2 9.5E-03 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement
7 5 2 9.9E-03 1 4.0E-02
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 8 3.2E-02 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology
9 4 1 4.9E-03 1 4.2E-02
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 9 3.5E-02 0 0
CUI: C4023607
Disease: Abnormal corpus striatum morphology
Abnormal corpus striatum morphology
5 0 1 5.0E-03 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
17 0 4 1.9E-02 0 0