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: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 32 7.6E-02 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 34 7.5E-02 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 0 34 7.4E-02 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 0 45 7.4E-02 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 27 7.4E-02 0 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		299 0 33 7.3E-02 0 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 22 7.3E-02 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		111 0 20 7.3E-02 0 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		112 0 20 7.3E-02 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 24 33 7.3E-02 1 3.3E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 29 7.2E-02 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 0 33 7.2E-02 0 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 0 15 7.1E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 0 36 7.1E-02 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 38 7.1E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 67 7.1E-02 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 63 7.0E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 63 7.0E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 33 7.0E-02 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 47 7.0E-02 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 44 6.9E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 93 6.9E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 23 6.7E-02 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 58 6.7E-02 0 0
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 0 48 6.7E-02 0 0