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 553 521 0.26 40 6.6E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 449 0.19 31 5.1E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 372 0.28 21 3.2E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 68 8.4E-02 20 6.3E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 94 0.11 18 3.7E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 94 0.11 18 0.13
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 308 0.23 17 7.2E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 48 5.8E-02 15 7.7E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 180 0.16 14 5.2E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 369 0.31 12 7.0E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 85 0.11 11 8.3E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 47 5.9E-02 10 8.5E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 209 0.21 10 6.7E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 337 0.22 10 2.7E-02
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		1 25 1 1.4E-03 10 9.6E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 117 0.11 9 6.6E-02
CUI: C0027092
Disease: Myopia
Myopia 		490 167 155 0.15 8 3.2E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 184 0.19 8 5.2E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 26 61 7.2E-02 8 7.5E-02
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		67 18 32 4.3E-02 8 8.1E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 136 0.14 8 6.2E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 34 4.3E-02 8 7.1E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia 		85 29 48 6.4E-02 7 6.3E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 90 8.9E-02 7 5.3E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 33 3.9E-02 7 5.3E-02