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: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
15 0 1 3.1E-02 0 0
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 15 1.6E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 13 0.32 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology
9 0 1 3.8E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology
41 0 1 1.7E-02 0 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology
10 0 2 7.7E-02 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity
29 0 2 4.4E-02 0 0
Abnormal nasolacrimal system morphology
23 0 2 5.1E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
45 0 1 1.6E-02 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology
40 0 13 0.29 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology
13 0 1 3.3E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
115 0 1 7.6E-03 0 0
CUI: C0000771
Disease: Abnormalities, Drug-Induced
Abnormalities, Drug-Induced
5 0 1 4.5E-02 0 0
Abnormality of cardiovascular system morphology
198 0 1 4.7E-03 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation
59 0 13 0.20 0 0
CUI: C4023333
Disease: Abnormality of corneal thickness
Abnormality of corneal thickness
1 0 1 5.6E-02 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
96 0 3 2.7E-02 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology
86 0 14 0.16 0 0
Abnormality of metabolism/homeostasis
171 0 15 8.6E-02 0 0
CUI: C4020960
Disease: Abnormality of nail color
Abnormality of nail color
8 0 2 8.3E-02 0 0
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe
26 0 2 4.8E-02 0 0
Abnormality of pelvic girdle bone morphology
55 0 1 1.4E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
215 0 14 6.4E-02 0 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum
55 0 1 1.4E-02 0 0