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 0.46 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 37 0.42 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 10 39 0.36 2 1.0E-01
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 39 0.24 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		125 0 37 0.22 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 41 0.22 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 38 0.21 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 13 39 0.20 2 8.7E-02
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 39 0.19 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 35 0.18 5 0.16
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 44 0.17 1 2.4E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 38 0.17 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 38 0.15 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 38 0.15 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 42 0.14 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 0 46 0.13 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 36 0.13 2 2.4E-02
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 0 39 0.12 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 42 0.12 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 44 0.12 1 1.1E-02
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 0 42 0.12 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 52 0.10 4 5.7E-02
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 122 12 0.10 1 7.5E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 43 0.10 1 1.7E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 47 9.7E-02 0 0