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: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 131 0.34 11 6.8E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 134 0.25 2 1.2E-02
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 89 0.24 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 157 0.24 38 0.15
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 100 0.20 1 6.7E-03
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 26 68 0.18 5 4.3E-02
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 49 0.18 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 58 0.18 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 78 0.18 10 5.3E-02
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 53 0.17 0 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 0 42 0.16 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 52 0.16 0 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 40 0.16 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 55 0.16 0 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 44 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 39 0.15 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 60 0.15 0 0
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 0 43 0.15 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 44 0.15 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 59 0.15 4 3.5E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 49 0.14 1 8.3E-03
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 80 0.14 0 0
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		141 0 49 0.14 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 65 0.14 0 0
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		45 29 36 0.14 1 8.2E-03