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: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 477 0.82 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 201 0.28 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 215 0.27 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 168 0.26 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 179 0.24 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 0 140 0.21 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 250 0.21 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 168 0.21 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 108 0.21 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 179 0.21 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 260 0.20 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 220 0.20 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 119 0.19 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 137 0.19 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 0 154 0.18 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 198 0.18 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 189 0.18 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 189 0.18 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 0 95 0.17 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 113 0.17 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 114 0.17 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 327 0.17 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 128 0.16 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 144 0.16 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 125 0.15 0 0