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 1061 0.36 144 0.15
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 150 6.8E-02 92 0.11
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 115 5.2E-02 70 9.6E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 302 0.13 50 7.2E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 613 0.25 42 6.2E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 712 0.27 52 6.2E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 267 0.12 34 5.7E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 449 0.19 31 5.1E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 633 0.25 54 5.0E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 182 8.3E-02 28 4.7E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 514 0.19 33 4.1E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 301 0.13 23 3.9E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 161 7.2E-02 23 3.7E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 162 7.2E-02 23 3.6E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 420 0.16 24 3.6E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 105 4.8E-02 21 3.6E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 487 0.18 32 3.5E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 265 0.12 20 3.4E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 86 3.9E-02 22 3.4E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 27 1.2E-02 19 3.2E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 484 0.19 19 3.0E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 119 5.4E-02 17 2.9E-02
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 32 227 0.10 16 2.8E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 274 0.12 17 2.8E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 294 0.13 17 2.8E-02