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 2 1.8E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 1 7.5E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 8 2.5E-02 0 0
Abnormal basal ganglia MRI signal intensity
7 0 1 2.7E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 6 6.4E-03 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 2 3.1E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 4 4.7E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 1 1.0E-02 0 0
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior
3 13 1 3.0E-02 1 7.1E-02
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity
13 0 1 2.3E-02 0 0
Abnormal fear/anxiety-related behavior
5 0 1 2.9E-02 0 0
Abnormal form of the vertebral bodies
89 0 1 8.4E-03 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements
6 0 1 2.8E-02 0 0
CUI: C4022766
Disease: Abnormal large intestine physiology
Abnormal large intestine physiology
3 0 1 3.0E-02 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology
30 0 6 0.11 0 0
Abnormal mitochondria in muscle tissue
39 0 4 6.1E-02 0 0
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology
4 0 1 2.9E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
49 0 1 1.3E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
45 6 3 4.1E-02 1 0.14
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology
19 0 1 2.0E-02 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology
40 0 1 1.4E-02 0 0
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior
19 0 6 0.14 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody
15 0 11 0.31 0 0
CUI: C1839341
Disease: Abnormal T-wave
Abnormal T-wave
20 0 1 2.0E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
115 0 7 5.0E-02 0 0