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: C4551584
Disease: Brain atrophy
Brain atrophy 		182 46 173 0.37 20 0.29
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 201 0.24 5 5.7E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 179 0.24 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 96 0.19 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 132 0.19 2 2.2E-02
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 67 121 0.19 7 6.7E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 141 0.18 2 1.4E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 218 0.18 4 2.0E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 117 0.17 4 3.3E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 134 0.17 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 42 112 0.17 5 6.2E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 100 0.16 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 141 0.16 1 4.3E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 207 0.16 0 0
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 69 97 0.15 2 1.8E-02
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		508 121 125 0.15 4 2.5E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 286 0.14 6 1.0E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 96 0.14 3 2.6E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 128 0.14 1 1.1E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 110 0.14 1 8.5E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 156 0.14 2 1.5E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 158 0.14 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 70 0.13 3 4.4E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 76 0.13 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 52 116 0.13 1 1.1E-02