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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 1 1.1E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 1 1.2E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 1 1.2E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 1 1.2E-03 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 1 1.6E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.6E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.6E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 2 1.7E-03 0 0
CUI: C1305855
Disease: Body mass index
Body mass index 		1014 0 2 1.9E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 1.9E-03 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 2 1.9E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 1 1.9E-03 0 0
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		486 0 1 1.9E-03 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 0 1 2.0E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 2.0E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 2 2.0E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 2 2.0E-03 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 1 2.1E-03 0 0
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		433 0 1 2.1E-03 0 0
CUI: C0042834
Disease: Vital capacity
Vital capacity 		430 0 1 2.2E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 2.2E-03 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 1 2.2E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 2 2.2E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 2 2.3E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.3E-03 0 0