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: C0002418
Disease: Amblyopia
Amblyopia 		0 29 0 0 1 3.2E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		0 39 0 0 1 2.4E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0 95 0 0 1 1.0E-02
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0 14 0 0 1 6.2E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0 70 0 0 1 1.4E-02
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		0 2 0 0 1 0.25
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0 11 0 0 1 7.7E-02
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0 19 0 0 1 4.8E-02
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		0 13 0 0 1 6.7E-02
CUI: C0431447
Disease: Synophrys
Synophrys 		0 23 0 0 1 4.0E-02
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0 10 0 0 1 8.3E-02
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0 23 0 0 1 4.0E-02
CUI: C0850703
Disease: Frequent falls
Frequent falls 		0 4 0 0 1 0.17
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0 24 0 0 1 3.8E-02
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		0 6 0 0 1 0.12
CUI: C1836038
Disease: Poor head control
Poor head control 		0 13 0 0 1 6.7E-02
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		0 6 0 0 1 0.12
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0 50 0 0 1 1.9E-02
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		0 17 0 0 1 5.3E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0 27 0 0 1 3.4E-02
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0 46 0 0 1 2.1E-02
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		0 13 0 0 1 6.7E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		0 72 0 0 1 1.4E-02
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		0 3 0 0 1 0.20
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0 24 0 0 1 3.8E-02