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: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome
1 0 1 5.6E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 1 9.8E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
15 0 1 3.1E-02 0 0
CUI: C4750783
Disease: 7q31 microdeletion syndrome
7q31 microdeletion syndrome
1 0 1 5.6E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 1 3.1E-03 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness
9 0 1 3.8E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 8 8.7E-03 0 0
Abnormal cardiac ventricular function
6 0 1 4.3E-02 0 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology
16 0 1 3.0E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 1 1.1E-02 0 0
CUI: C4021982
Disease: Abnormal eating behavior
Abnormal eating behavior
8 0 1 4.0E-02 0 0
Abnormal form of the vertebral bodies
89 0 2 1.9E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements
6 0 1 4.3E-02 0 0
CUI: C4025715
Disease: Abnormal large intestine morphology
Abnormal large intestine morphology
2 0 1 5.3E-02 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation
32 0 1 2.0E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
49 0 2 3.1E-02 0 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology
17 0 1 2.9E-02 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody
15 0 2 6.5E-02 0 0
Abnormal subcutaneous fat tissue distribution
9 0 1 3.8E-02 0 0
Abnormality of cardiovascular system morphology
198 0 1 4.7E-03 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
96 0 1 8.8E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
215 0 1 4.3E-03 0 0
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia
17 0 1 2.9E-02 0 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum
55 0 1 1.4E-02 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle
42 0 1 1.7E-02 0 0