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: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
12 0 2 5.9E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 1 2.1E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 1 7.9E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 1 3.1E-03 0 0
Abnormal amplitude of pattern reversal visual evoked potentials
1 0 1 4.2E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential
11 0 2 6.1E-02 0 0
Abnormal brainstem MRI signal intensity
5 0 1 3.6E-02 0 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology
16 0 2 5.3E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 1 1.2E-02 0 0
CUI: C4023607
Disease: Abnormal corpus striatum morphology
Abnormal corpus striatum morphology
5 0 1 3.6E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
39 0 1 1.6E-02 0 0
CUI: C1970887
Disease: Abnormal middle ear reflexes
Abnormal middle ear reflexes
1 0 1 4.2E-02 0 0
Abnormal mitochondria in muscle tissue
39 0 1 1.6E-02 0 0
Abnormal morphology of the cerebellar cortex
2 0 1 4.0E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
45 0 2 3.0E-02 0 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture
13 0 2 5.7E-02 0 0
CUI: C1836752
Disease: Abnormal speech discrimination
Abnormal speech discrimination
2 0 2 8.3E-02 0 0
CUI: C0520933
Disease: Abnormal spermatogenesis
Abnormal spermatogenesis
5 0 1 3.6E-02 0 0
Abnormal thalamic MRI signal intensity
4 0 1 3.7E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
115 0 2 1.5E-02 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
55 0 2 2.6E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
104 0 1 7.9E-03 0 0
CUI: C4025596
Disease: Abnormality of connective tissue
Abnormality of connective tissue
4 0 1 3.7E-02 0 0
CUI: C4023328
Disease: Abnormality of corneal stroma
Abnormality of corneal stroma
1 0 1 4.2E-02 0 0
CUI: C4023551
Disease: Abnormality of dental color
Abnormality of dental color
11 0 1 2.9E-02 0 0