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: C0036572
Disease: Seizures
Seizures 		2152 553 1061 0.36 144 0.15
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 170 9.1E-02 110 0.13
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 140 7.6E-02 103 0.15
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 677 0.32 88 8.4E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 431 0.22 81 0.12
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 659 0.29 66 8.5E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 751 0.37 65 1.0E-01
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 99 5.2E-02 52 8.3E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 53 2.9E-02 42 6.7E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 217 0.12 41 6.6E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 521 0.26 40 6.6E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 575 0.31 40 6.9E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 510 0.24 33 5.4E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 369 0.19 28 4.8E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 65 3.5E-02 27 4.6E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 216 0.12 27 4.5E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 396 0.15 26 3.0E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 481 0.22 25 3.8E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 403 0.20 24 4.0E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 219 0.11 24 3.9E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 381 0.19 23 3.9E-02
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		30 25 29 1.6E-02 23 4.1E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 384 0.15 22 2.4E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 333 0.17 22 3.7E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 229 0.12 22 3.6E-02