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 38 0.73 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 37 0.45 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia
77 0 37 0.42 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
127 0 38 0.28 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
125 0 37 0.27 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady
143 0 37 0.24 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
152 0 38 0.23 0 0
CUI: C1836038
Disease: Poor head control
Poor head control
162 0 38 0.22 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
169 0 37 0.20 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
187 0 36 0.18 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking
224 0 40 0.17 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia
218 0 38 0.17 0 0
CUI: C0239676
Disease: High forehead
High forehead
211 0 37 0.17 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus
265 0 38 0.14 0 0
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior
276 0 39 0.14 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
316 0 39 0.12 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
312 0 38 0.12 0 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
320 0 38 0.11 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
333 0 37 0.11 0 0
CUI: C1854882
Disease: Absent speech
Absent speech
232 0 26 0.10 0 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
53 0 9 9.7E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
391 0 38 9.5E-02 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
457 0 40 8.6E-02 0 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
446 0 39 8.6E-02 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
454 0 39 8.4E-02 0 0