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: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity
41 0 37 0.25 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
49 0 37 0.24 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 37 0.21 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia
77 0 38 0.21 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
125 0 38 0.17 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
127 0 38 0.16 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
152 0 41 0.16 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking
224 30 50 0.16 1 2.3E-02
CUI: C1836038
Disease: Poor head control
Poor head control
162 13 41 0.16 1 3.8E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus
265 0 51 0.14 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
169 0 39 0.14 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
312 0 55 0.14 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
187 126 39 0.13 1 7.2E-03
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
477 0 71 0.13 0 0
CUI: C0239676
Disease: High forehead
High forehead
211 0 40 0.13 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
333 0 53 0.13 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia
218 0 39 0.12 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
580 48 78 0.12 4 6.9E-02
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior
276 0 44 0.12 0 0
Delayed speech and language development
560 192 73 0.12 1 4.9E-03
CUI: C1854882
Disease: Absent speech
Absent speech
232 72 38 0.11 1 1.2E-02
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
316 0 46 0.11 0 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
320 0 46 0.11 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
321 0 46 0.11 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
172 17 31 0.11 3 0.11