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: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 139 0.92 0 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		160 0 140 0.83 0 0
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		35 0 15 8.9E-02 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 26 8.7E-02 0 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		103 0 20 8.7E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 45 8.5E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 31 8.4E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 45 8.3E-02 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		40 0 14 8.0E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 26 7.8E-02 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 20 7.6E-02 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 0 24 7.6E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 48 7.3E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 33 7.3E-02 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 27 7.1E-02 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 0 22 7.0E-02 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 0 42 6.9E-02 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 146 6.7E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 0 32 6.7E-02 0 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		355 0 31 6.6E-02 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 0 19 6.3E-02 0 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		210 0 21 6.2E-02 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 40 6.2E-02 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 18 6.2E-02 0 0
CUI: C0241210
Disease: Speech Delay
Speech Delay 		58 0 12 6.2E-02 0 0