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: C0028754
Disease: Obesity
Obesity 		2821 0 1 3.5E-04 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 1 4.6E-04 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 1 5.5E-04 0 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 0 1 6.1E-04 0 0
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 0 1 7.9E-04 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 0 1 9.0E-04 0 0
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 0 1 9.3E-04 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 1 1.0E-03 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 0 1 1.2E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.8E-03 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 1 1.9E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 1 2.3E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 2.3E-03 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 1 2.3E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 2.6E-03 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 1 2.7E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 0 1 2.8E-03 0 0
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		328 0 1 3.0E-03 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 1 3.1E-03 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 0 1 3.3E-03 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 1 3.5E-03 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 1 3.5E-03 0 0
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 0 1 3.6E-03 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 1 3.8E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 4.0E-03 0 0