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: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 131 0.34 11 6.8E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 155 0.23 17 6.7E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 129 0.23 1 6.6E-03
CUI: C1848207
Disease: Poor speech
Poor speech 		208 9 87 0.23 1 1.2E-02
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 68 0.21 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 26 76 0.20 4 4.0E-02
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 66 0.19 0 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 57 0.18 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 69 0.17 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 8 57 0.17 2 2.4E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 87 0.17 1 7.5E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 77 0.17 8 4.5E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 93 0.17 2 1.6E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 82 0.17 5 3.4E-02
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		236 0 71 0.17 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 67 0.17 3 3.0E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 56 0.16 0 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		210 0 66 0.16 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 47 0.16 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 0 78 0.16 0 0
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 0 46 0.16 0 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 0 42 0.15 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 91 0.15 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 158 0.15 6 2.5E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 64 0.15 5 3.4E-02