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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 575 0.31 40 6.9E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 142 0.16 5 7.4E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 369 0.16 3 1.3E-02
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 146 0.15 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 195 0.15 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 98 135 0.14 1 6.1E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 27 201 0.14 1 1.1E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 188 0.14 5 7.8E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 137 0.14 2 7.8E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 316 0.13 5 8.1E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 150 0.13 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 115 0.13 1 7.1E-03
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		355 19 106 0.13 2 2.4E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 106 0.12 2 1.7E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 183 0.12 1 2.2E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 190 0.12 14 3.6E-02
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 73 177 0.12 2 1.4E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 179 0.12 5 1.4E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 166 0.12 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 191 0.12 2 1.4E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 86 0.11 2 1.4E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 142 0.11 2 1.0E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 331 163 0.11 4 1.0E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 96 0.11 2 1.7E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 114 0.11 2 1.4E-02