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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 263 0.19 4 9.9E-03
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 331 256 0.19 4 1.2E-02
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		328 49 126 0.17 2 3.3E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 364 0.16 2 1.2E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 130 0.15 0 0
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 0 146 0.15 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 103 0.15 1 1.1E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 139 0.15 1 4.9E-03
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		355 0 111 0.14 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 420 167 0.14 3 7.0E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 280 0.13 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 206 0.13 3 8.6E-03
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 0 122 0.13 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 108 0.13 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 166 0.13 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 160 0.12 3 2.3E-02
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 0 192 0.12 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 158 0.12 0 0
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		607 47 120 0.12 2 3.4E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 282 0.12 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 77 0.12 0 0
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		234 368 77 0.11 3 7.9E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 158 0.11 0 0
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		533 0 105 0.11 0 0
CUI: C0004936
Disease: Mental disorders
Mental disorders 		789 149 130 0.11 2 1.2E-02