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: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 38 0.73 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 37 0.50 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 37 0.46 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		125 0 37 0.29 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 37 0.28 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 37 0.25 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 37 0.24 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 38 0.23 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 37 0.21 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 34 0.18 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 37 0.17 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 37 0.17 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 37 0.16 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 39 0.15 0 0
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 0 38 0.14 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 38 0.12 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 0 38 0.12 0 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 0 37 0.11 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 38 0.11 1 1.2E-02
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 0 9 0.11 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 37 9.4E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 23 9.2E-02 1 1.4E-02
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		11 0 4 8.3E-02 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 38 8.3E-02 0 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 37 8.2E-02 0 0