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: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
20 0 2 1.9E-02 0 0
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
1 0 1 1.1E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 7 1.8E-02 0 0
Abnormal atrioventricular conduction
7 0 1 1.1E-02 0 0
Abnormal basal ganglia MRI signal intensity
7 0 1 1.1E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 5 5.0E-03 0 0
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS
1 0 1 1.1E-02 0 0
Abnormal brainstem MRI signal intensity
5 0 2 2.2E-02 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology
9 0 6 6.7E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 2 1.7E-02 0 0
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision
5 5 1 1.1E-02 1 0.20
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 1 6.9E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 2 1.3E-02 0 0
CUI: C4023607
Disease: Abnormal corpus striatum morphology
Abnormal corpus striatum morphology
5 0 2 2.2E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
39 0 1 8.0E-03 0 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology
10 0 5 5.4E-02 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology
30 0 7 6.4E-02 0 0
CUI: C0278097
Disease: Abnormal male sexual function
Abnormal male sexual function
12 0 1 1.0E-02 0 0
CUI: C1970887
Disease: Abnormal middle ear reflexes
Abnormal middle ear reflexes
1 0 1 1.1E-02 0 0
Abnormal mitochondria in muscle tissue
39 0 32 0.34 0 0
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology
4 0 1 1.1E-02 0 0
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone
14 0 1 1.0E-02 0 0
Abnormal nasolacrimal system morphology
23 0 1 9.2E-03 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
45 0 2 1.5E-02 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration
20 0 5 4.9E-02 0 0