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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 26 5.4E-02 1 1.6E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 37 3.7E-02 4 6.8E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 46 2.1E-02 6 1.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 46 2.5E-02 3 5.4E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 19 7.2E-02 1 2.4E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 20 6.6E-02 1 2.8E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 16 9.5E-03 3 8.5E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 23 2.9E-02 1 2.9E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 36 3.1E-02 2 6.7E-03
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 2 2.9E-03 1 3.4E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 10 4.5E-02 1 3.9E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 28 4.6E-02 6 3.1E-02
CUI: C0027092
Disease: Myopia
Myopia 		490 167 24 4.5E-02 1 5.7E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 31 3.1E-02 1 5.8E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 52 2.4E-02 1 6.0E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 5 2.2E-02 2 1.5E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 8 1.6E-02 1 7.8E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 12 3.6E-02 1 8.7E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 6 1.2E-02 3 2.9E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 19 4.4E-02 1 9.5E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 12 3.9E-02 1 9.7E-03
CUI: C1849265
Disease: Overgrowth
Overgrowth 		103 93 4 2.4E-02 1 9.8E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 6 1.5E-02 1 1.1E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 12 3.7E-02 1 1.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 29 4.6E-02 2 2.4E-02