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: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 835 0.44 138 0.18
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 139 0.10 92 0.12
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 108 8.0E-02 70 0.12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 585 0.35 52 5.5E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		556 192 270 0.17 50 8.9E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 552 0.33 41 7.6E-02
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 466 0.24 33 4.9E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		324 78 242 0.18 33 7.1E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 416 0.27 31 6.6E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 162 0.12 28 6.1E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		223 93 127 9.1E-02 23 4.7E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		459 62 266 0.18 23 5.0E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		269 106 143 0.10 23 4.6E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		244 181 148 0.11 22 3.8E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 356 0.21 22 4.3E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 54 4.1E-02 22 4.3E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 102 7.7E-02 21 4.7E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		351 49 231 0.16 20 4.5E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 83 430 0.26 19 4.0E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 26 2.0E-02 19 4.2E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		496 66 253 0.16 17 3.6E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 113 8.4E-02 17 3.7E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		228 76 133 9.6E-02 17 3.6E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		334 62 219 0.16 16 3.5E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		32 41 21 1.6E-02 15 3.4E-02