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: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 0 37 0.50 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 37 0.45 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 12 39 0.36 2 1.0E-01
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		125 0 38 0.24 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 38 0.24 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 37 0.21 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 39 0.20 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 37 0.20 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 38 0.19 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 41 0.17 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 35 0.16 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 38 0.15 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 38 0.15 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 37 0.12 0 0
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 0 37 0.12 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 0 41 0.12 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 48 0.12 1 1.7E-02
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 39 0.11 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 41 0.11 1 1.1E-02
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 0 39 0.11 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 30 0.11 1 1.2E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 53 0.11 2 2.9E-02
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 45 9.6E-02 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 42 8.3E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 51 8.3E-02 3 4.7E-02