Source: ALL
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: C4021781
Disease: Abnormal nervous system electrophysiology
Abnormal nervous system electrophysiology 		3 0 3 5.9E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 2 2.1E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		13 0 1 1.6E-02 0 0
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior 		19 0 2 2.9E-02 0 0
CUI: C1839341
Disease: Abnormal T-wave
Abnormal T-wave 		20 0 1 1.4E-02 0 0
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		4 0 1 1.9E-02 0 0
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		20 0 1 1.4E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 4 2.5E-02 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 0 2 1.9E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 131 3 2.0E-02 1 4.9E-03
CUI: C4023055
Disease: Abnormality of central motor conduction
Abnormality of central motor conduction 		1 0 1 2.0E-02 0 0
CUI: C4025670
Disease: Abnormality of chromosome segregation
Abnormality of chromosome segregation 		5 0 1 1.8E-02 0 0
CUI: C2674737
Disease: Abnormality of finger
Abnormality of finger 		8 0 1 1.7E-02 0 0
CUI: C4025350
Disease: Abnormality of glycosphingolipid metabolism
Abnormality of glycosphingolipid metabolism 		3 0 1 1.9E-02 0 0
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		25 0 1 1.3E-02 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 4 1.8E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 3.8E-03 0 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		17 0 1 1.5E-02 0 0
CUI: C4024167
Disease: Abnormality of the antitragus
Abnormality of the antitragus 		7 0 1 1.8E-02 0 0
CUI: C1849357
Disease: Abnormality of the aryepiglottic fold
Abnormality of the aryepiglottic fold 		3 0 1 1.9E-02 0 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		55 0 2 1.9E-02 0 0
CUI: C0151583
Disease: Abnormality of the cerebrospinal fluid
Abnormality of the cerebrospinal fluid 		3 0 1 1.9E-02 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 1 5.3E-03 0 0
CUI: C4024751
Disease: Abnormality of the extraocular muscles
Abnormality of the extraocular muscles 		4 0 1 1.9E-02 0 0
CUI: C4025796
Disease: Abnormality of the fingertips
Abnormality of the fingertips 		1 0 1 2.0E-02 0 0