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: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 13 5.4E-02 0 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology
12 0 5 2.2E-02 0 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility
9 0 1 4.4E-03 0 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology
16 0 4 1.7E-02 0 0
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision
5 5 3 1.4E-02 2 8.7E-03
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 3 1.1E-02 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology
9 4 1 4.4E-03 2 8.7E-03
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 5 1.8E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
17 0 1 4.3E-03 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
44 0 1 3.8E-03 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology
11 0 2 8.8E-03 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
39 0 5 2.0E-02 0 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology
10 0 1 4.4E-03 0 0
Abnormal form of the vertebral bodies
89 0 10 3.4E-02 0 0
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology
5 0 4 1.8E-02 0 0
CUI: C4022946
Disease: Abnormal glycosylation
Abnormal glycosylation
6 0 1 4.5E-03 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity
29 0 1 4.0E-03 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements
6 0 1 4.5E-03 0 0
Abnormal isoelectric focusing of serum transferrin
15 10 1 4.3E-03 1 4.2E-03
Abnormal lactate dehydrogenase activity
19 0 14 6.2E-02 0 0
Abnormal light- and dark-adapted electroretinogram
9 0 6 2.7E-02 0 0
Abnormal liver parenchyma morphology
4 0 1 4.5E-03 0 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney
40 0 1 3.9E-03 0 0
Abnormal lower motor neuron morphology
23 0 1 4.1E-03 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology
30 0 2 8.1E-03 0 0