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 70 0.26 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 89 0.24 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 87 0.23 1 1.2E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 116 0.22 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 0 70 0.21 0 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 40 0.19 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 45 0.18 0 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 0 40 0.18 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 117 0.18 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 43 0.18 0 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 43 0.18 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 45 0.17 0 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 48 0.17 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 47 0.17 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 56 0.16 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 49 0.16 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 0 51 0.16 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 45 0.16 0 0
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe 		32 0 32 0.15 0 0
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
Moderate sensorineural hearing impairment 		34 0 32 0.15 0 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		35 0 32 0.15 0 0
CUI: C4021538
Disease: Mild neurosensory hearing impairment
Mild neurosensory hearing impairment 		35 0 32 0.15 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 78 0.15 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 45 0.15 0 0
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 32 0.15 0 0