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: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV
4 0 1 2.3E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 2 5.9E-03 0 0
Abnormal atrioventricular conduction
7 0 1 2.2E-02 0 0
Abnormal basal ganglia MRI signal intensity
7 0 1 2.2E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 3 3.2E-03 0 0
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS
1 0 1 2.5E-02 0 0
Abnormal brainstem MRI signal intensity
5 0 2 4.7E-02 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology
9 0 3 6.5E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 1 1.0E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 1 9.2E-03 0 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology
10 0 2 4.2E-02 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology
30 0 2 2.9E-02 0 0
Abnormal mitochondria in muscle tissue
39 0 11 0.16 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
45 0 1 1.2E-02 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration
20 0 5 9.1E-02 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement
17 0 2 3.6E-02 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody
15 0 3 5.8E-02 0 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology
28 0 1 1.5E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
115 0 3 2.0E-02 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
55 0 3 3.3E-02 0 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology
21 0 2 3.4E-02 0 0
Abnormality of Krebs cycle metabolism
12 0 3 6.1E-02 0 0
Abnormality of mitochondrial metabolism
21 0 2 3.4E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
215 0 2 7.9E-03 0 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology
10 0 2 4.2E-02 0 0