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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 87 0.24 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 107 0.22 1 8.8E-03
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 74 0.22 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 119 0.19 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 0 90 0.18 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 52 122 0.18 2 2.4E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 110 0.18 2 2.1E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 127 0.18 1 1.2E-02
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 63 0.17 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 100 0.16 2 1.6E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 100 0.16 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 153 0.16 3 3.0E-02
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 25 78 0.15 2 3.5E-02
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 32 75 0.15 3 4.8E-02
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 51 0.15 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 53 0.15 0 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 0 39 0.15 0 0
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		508 121 97 0.14 4 2.6E-02
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 51 0.14 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 8 46 0.14 1 2.4E-02
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 71 0.14 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 42 0.14 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 44 0.14 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 38 0.14 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 19 96 0.14 1 1.9E-02