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: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 1 2.1E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 4 4.3E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 1 1.1E-02 0 0
Abnormal brain FDG positron emission tomography
18 0 1 2.9E-02 0 0
Abnormal brainstem MRI signal intensity
5 0 2 9.5E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 4 5.5E-02 0 0
CUI: C4023607
Disease: Abnormal corpus striatum morphology
Abnormal corpus striatum morphology
5 0 1 4.5E-02 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology
29 0 1 2.2E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
39 0 1 1.8E-02 0 0
CUI: C4025109
Disease: Abnormal hand morphology
Abnormal hand morphology
5 0 1 4.5E-02 0 0
Abnormal lower motor neuron morphology
23 0 1 2.5E-02 0 0
CUI: C1970887
Disease: Abnormal middle ear reflexes
Abnormal middle ear reflexes
1 0 1 5.6E-02 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement
17 0 1 2.9E-02 0 0
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior
19 0 1 2.8E-02 0 0
CUI: C1836752
Disease: Abnormal speech discrimination
Abnormal speech discrimination
2 0 1 5.3E-02 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody
15 0 1 3.1E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
115 0 1 7.6E-03 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
55 0 1 1.4E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
104 0 1 8.3E-03 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation
59 0 1 1.3E-02 0 0
Abnormality of female internal genitalia
31 0 1 2.1E-02 0 0
Abnormality of metabolism/homeostasis
171 0 2 1.1E-02 0 0
CUI: C0391870
Disease: Abnormality of red blood cells
Abnormality of red blood cells
2 0 1 5.3E-02 0 0
CUI: C4021642
Disease: Abnormality of the Achilles tendon
Abnormality of the Achilles tendon
8 0 1 4.0E-02 0 0
CUI: C4021991
Disease: Abnormality of the astrocytes
Abnormality of the astrocytes
1 0 1 5.6E-02 0 0