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 39 0.14 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 54 0.14 1 1.0E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 26 44 0.14 2 4.3E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 81 0.12 6 2.9E-02
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		91 9 29 0.12 3 0.11
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 0 27 0.11 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 60 0.11 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 38 0.11 5 1.2E-02
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 37 0.11 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 41 0.11 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 59 0.11 1 1.6E-03
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 37 0.11 2 4.4E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 42 0.11 0 0
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		94 16 25 0.10 1 2.7E-02
CUI: C0013528
Disease: Echolalia
Echolalia 		39 4 19 9.7E-02 1 4.0E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 45 9.6E-02 5 6.8E-02
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 33 9.5E-02 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 60 9.2E-02 0 0
CUI: C3887612
Disease: Psychomotor Agitation
Psychomotor Agitation 		26 0 17 9.2E-02 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 0 40 9.2E-02 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 40 8.9E-02 4 4.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 33 8.8E-02 2 2.2E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 28 8.8E-02 2 2.7E-02
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		148 0 26 8.7E-02 0 0
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		236 0 33 8.7E-02 0 0