Source: INFERRED ×
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 		1292 417 835 0.44 138 0.18
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 132 8.9E-02 103 0.16
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 160 0.11 110 0.14
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		556 192 409 0.25 81 0.13
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 714 0.42 65 0.11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 68 4.6E-02 52 9.1E-02
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 622 0.32 65 8.9E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 633 0.36 88 8.8E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 52 3.5E-02 42 7.3E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		269 106 204 0.13 41 7.2E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 499 0.30 39 7.1E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 83 480 0.27 33 5.9E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		459 62 348 0.22 28 5.2E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		116 59 60 4.0E-02 27 5.0E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 208 0.14 27 4.9E-02
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		28 25 25 1.7E-02 23 4.5E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		574 52 357 0.21 23 4.3E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 382 0.23 24 4.3E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		324 78 205 0.13 24 4.3E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 38 2.6E-02 22 4.1E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 88 5.9E-02 21 4.0E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		496 66 319 0.20 22 4.0E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 432 0.24 24 4.0E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		351 49 297 0.20 21 3.9E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		228 76 201 0.14 22 3.9E-02