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 0.29 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 37 0.27 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 38 0.24 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 37 0.22 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 8 38 0.18 1 0.11
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 38 0.17 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 39 0.16 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 37 0.15 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 38 0.15 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 41 0.14 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 41 0.14 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 37 0.13 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 40 0.13 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 38 0.13 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 10 32 0.13 1 9.1E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 34 0.12 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 23 0.12 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 75 0.12 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 49 0.12 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 41 0.12 0 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 0 46 0.12 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 45 0.11 0 0
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 0 41 0.11 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 0 43 0.11 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 22 0.11 0 0