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: C0027651
Disease: Neoplasms
Neoplasms 		10161 1644 55 5.4E-03 2 1.2E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 27 5.5E-02 1 1.6E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 40 4.0E-02 6 1.0E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 51 2.3E-02 4 7.1E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 66 3.6E-02 5 8.8E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 24 8.9E-02 5 1.2E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 21 1.6E-02 1 2.8E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 49 4.2E-02 3 9.8E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 15 6.6E-02 3 1.2E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 30 4.9E-02 1 4.8E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 20 3.6E-02 2 1.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 36 3.6E-02 2 1.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 41 4.6E-02 5 3.4E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 5 1.9E-02 1 7.0E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 7 2.9E-02 2 1.5E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 6 4.3E-02 2 1.5E-02
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 25 1.9E-02 3 2.4E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 19 5.7E-02 2 1.7E-02
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		480 105 10 1.8E-02 1 8.3E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 4 7.5E-03 1 8.8E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 24 5.4E-02 3 2.7E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 34 3.9E-02 2 1.8E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 16 5.0E-02 5 4.7E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 49 6.5E-02 3 2.9E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 28 5.8E-02 2 2.0E-02