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 78 0.18 10 5.3E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 77 0.17 8 4.5E-02
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 51 0.17 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 49 0.16 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 57 0.16 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 91 0.16 3 2.0E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 96 0.16 13 7.8E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 26 62 0.15 2 1.5E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 109 0.15 16 5.7E-02
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 6 51 0.15 2 1.8E-02
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 45 0.15 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 9 61 0.15 2 1.8E-02
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 29 59 0.14 2 1.5E-02
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 7 53 0.14 1 8.9E-03
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 39 0.14 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 150 0.14 12 4.7E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 80 0.14 1 7.2E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 74 0.14 3 1.9E-02
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 0 39 0.14 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 48 0.13 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 20 50 0.13 1 8.0E-03
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 74 0.13 0 0
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		236 10 56 0.12 1 8.7E-03
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 63 0.12 2 1.1E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 82 0.12 5 3.0E-02