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: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 477 0.82 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 19 235 0.27 3 4.7E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 216 0.26 6 4.3E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 201 0.24 5 5.7E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 173 0.23 4 3.2E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 187 0.21 11 0.12
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 265 0.21 5 2.4E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 27 282 0.21 1 1.4E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 244 0.20 3 2.7E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 191 0.20 3 3.1E-02
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 42 148 0.20 1 1.1E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 157 0.19 7 7.8E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 224 0.19 18 0.14
CUI: C0040822
Disease: Tremor
Tremor 		528 0 173 0.19 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 208 0.18 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 208 0.18 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 7 111 0.18 1 1.9E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 34 127 0.18 1 1.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 360 0.18 13 2.2E-02
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 67 130 0.17 2 1.8E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 139 0.16 5 4.3E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 157 0.16 6 2.6E-02
CUI: C0008489
Disease: Chorea
Chorea 		168 20 102 0.16 3 4.6E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 210 0.16 4 6.4E-03
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 121 0.16 0 0