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 16 2 2.1E-02 1 4.5E-02
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
15 0 1 4.0E-02 0 0
CUI: C4304527
Disease: 6q25 microdeletion syndrome
6q25 microdeletion syndrome
1 0 1 9.1E-02 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion
1 0 1 9.1E-02 0 0
Abnormal aggressive, impulsive or violent behavior
2 0 1 8.3E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 4 4.4E-03 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 4 2 2.9E-02 2 0.22
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 1 1.3E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
17 12 1 3.7E-02 1 5.6E-02
Abnormal Descemet membrane morphology
2 1 1 8.3E-02 1 0.14
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone
14 7 1 4.2E-02 1 7.7E-02
CUI: C4022739
Disease: Abnormal neuron morphology
Abnormal neuron morphology
8 0 1 5.6E-02 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function
21 0 1 3.2E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology
13 8 1 4.3E-02 1 7.1E-02
CUI: C1968942
Disease: Abnormal sacral segmentation
Abnormal sacral segmentation
1 0 1 9.1E-02 0 0
CUI: C4025842
Disease: Abnormal uvea morphology
Abnormal uvea morphology
1 1 1 9.1E-02 1 0.14
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
55 5 2 3.1E-02 1 9.1E-02
Abnormality of cardiovascular system morphology
198 0 1 4.8E-03 0 0
CUI: C1859363
Disease: Abnormality of dental eruption
Abnormality of dental eruption
10 1 1 5.0E-02 1 0.14
CUI: C4021945
Disease: Abnormality of globe size
Abnormality of globe size
2 0 1 8.3E-02 0 0
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size
3 0 1 7.7E-02 0 0
CUI: C4022563
Disease: Abnormality of muscle size
Abnormality of muscle size
1 0 1 9.1E-02 0 0
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation
6 0 1 6.2E-02 0 0
Abnormality of skin adnexa morphology
2 0 1 8.3E-02 0 0
CUI: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles
17 0 1 3.7E-02 0 0