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: C0036341
Disease: Schizophrenia
Schizophrenia 		2872 0 1 3.5E-04 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 1 4.6E-04 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 0 1 9.0E-04 0 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 1 9.1E-04 0 0
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 0 1 9.3E-04 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 1 1.0E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 1 1.1E-03 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 1 1.1E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 1 1.2E-03 0 0
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		843 0 1 1.2E-03 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 1 1.2E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 1 1.6E-03 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 1 1.6E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.7E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 1 1.8E-03 1 5.1E-03
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 14 1 1.9E-03 1 5.0E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 2.6E-03 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 1 3.0E-03 0 0
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		328 0 1 3.0E-03 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 0 1 3.2E-03 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 1 3.5E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 1 3.7E-03 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 1 3.8E-03 2 2.4E-02