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: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 6 67 0.27 1 2.9E-02
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 59 0.26 0 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 40 0.20 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 9 45 0.20 1 2.7E-02
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 0 40 0.19 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 8 52 0.19 1 2.8E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 92 0.19 3 4.0E-02
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 42 0.18 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 48 0.17 1 1.8E-02
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		158 0 51 0.17 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 56 0.16 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 48 0.16 0 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		210 0 55 0.16 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 60 0.15 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 44 0.15 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 70 0.15 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 26 38 0.15 1 1.9E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 79 0.14 2 2.0E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 59 0.14 2 1.5E-02
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 44 0.14 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 43 0.14 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 83 0.14 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 52 0.14 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 0 47 0.14 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 68 0.13 1 1.6E-02