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: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 134 0.69 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 70 0.21 0 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 47 0.21 0 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 0 42 0.21 0 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 40 0.21 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 47 0.21 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 45 0.20 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 76 0.20 4 4.0E-02
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 48 0.18 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 68 0.18 5 4.3E-02
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 7 50 0.17 1 3.1E-02
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		210 13 57 0.17 1 2.6E-02
CUI: C0008489
Disease: Chorea
Chorea 		168 0 51 0.17 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 46 0.16 1 1.9E-02
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		236 0 60 0.16 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 70 0.16 6 6.4E-02
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		210 0 55 0.16 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 84 0.16 3 3.1E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 62 0.15 2 1.5E-02
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 42 66 0.15 1 1.5E-02
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		158 0 44 0.14 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 94 0.14 4 1.9E-02
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 0 58 0.14 0 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		360 38 67 0.14 1 1.6E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 70 0.14 1 1.4E-02