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: C0266574
Disease: Ablepharon
Ablepharon
20 0 1 2.6E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 4 7.7E-02 0 0
Abnormal form of the vertebral bodies
89 0 2 1.9E-02 0 0
Abnormal light- and dark-adapted electroretinogram
9 0 1 3.6E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
45 0 1 1.6E-02 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology
19 0 1 2.6E-02 0 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology
28 0 1 2.1E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
115 0 1 7.5E-03 0 0
CUI: C4020869
Disease: Abnormality of abdomen morphology
Abnormality of abdomen morphology
17 0 1 2.8E-02 0 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density
22 0 1 2.4E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
104 0 2 1.6E-02 0 0
Abnormality of cardiovascular system morphology
198 0 4 1.9E-02 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology
86 0 1 9.5E-03 0 0
CUI: C4703439
Disease: Abnormality of fundus pigmentation
Abnormality of fundus pigmentation
14 0 1 3.0E-02 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve
40 0 1 1.7E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
215 0 4 1.7E-02 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle
42 0 1 1.6E-02 0 0
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube
22 0 1 2.4E-02 0 0
Abnormality of the hypothalamus-pituitary axis
70 0 3 3.4E-02 0 0
CUI: C4021777
Disease: Abnormality of the larynx
Abnormality of the larynx
11 0 1 3.3E-02 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver
75 0 1 1.1E-02 0 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones
40 0 1 1.7E-02 0 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc
26 0 1 2.2E-02 0 0
CUI: C4021818
Disease: Abnormality of the ovary
Abnormality of the ovary
8 0 2 7.7E-02 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
85 0 1 9.6E-03 0 0