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 553 170 9.1E-02 110 0.13
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 150 6.8E-02 92 0.11
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 62 0.20 63 0.11
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 101 0.15 49 8.8E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 112 0.11 45 4.8E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 97 7.8E-02 32 4.8E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 26 0.10 32 6.5E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 48 0.11 25 5.1E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 94 0.11 18 3.7E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 61 9.8E-02 18 4.0E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 45 0.11 18 3.8E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 103 9.7E-02 18 3.2E-02
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		1 18 1 4.7E-03 18 4.4E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 76 6.1E-02 16 2.0E-02
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 45 26 7.3E-02 16 3.6E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 41 0.12 15 3.3E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 23 7.5E-02 15 3.3E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 28 8.0E-02 14 2.7E-02
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 131 10 3.3E-02 14 2.7E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 57 0.11 13 2.0E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 71 7.3E-02 13 2.6E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 43 9.0E-02 13 2.8E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 35 5.6E-02 12 2.4E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 23 7.4E-02 12 2.7E-02
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		17 194 1 4.4E-03 12 2.0E-02