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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 501 0.23 63 0.32
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 130 0.16 2 1.2E-02
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		141 13 82 0.15 3 2.8E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 118 0.14 1 1.4E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 135 0.14 1 6.1E-03
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 122 0.13 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 187 0.13 6 1.2E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 87 0.13 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 256 0.12 5 7.7E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 117 0.12 1 3.5E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 92 0.12 3 2.0E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 82 0.12 1 5.7E-03
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 331 167 0.12 4 9.4E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 273 0.11 12 1.9E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 151 0.11 0 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		355 0 88 0.11 0 0
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		328 49 84 0.11 2 1.4E-02
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		424 28 91 0.11 1 8.0E-03
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 73 156 0.11 2 1.2E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 420 131 0.11 5 9.7E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 151 0.11 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 129 0.11 1 4.3E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 116 0.10 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 164 0.10 1 5.7E-03
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		607 47 103 0.10 1 6.9E-03