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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 1 9.9E-04 0 0
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		580 0 1 1.6E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 1 1.7E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 1.8E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 1 1.9E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 1.9E-03 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 1 1.9E-03 0 0
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		451 0 1 2.0E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 1 2.0E-03 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 1 2.1E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 2 2.2E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 2 2.2E-03 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 0 1 2.3E-03 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 1 2.3E-03 0 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		360 0 1 2.4E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 2 2.4E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 2 2.4E-03 0 0
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		340 0 1 2.5E-03 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 2 2.6E-03 0 0
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		328 0 1 2.6E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 2 2.6E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 2.6E-03 0 0
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		320 0 1 2.6E-03 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 1 2.6E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 1 2.7E-03 0 0