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: C0025362
Disease: Mental Retardation
Mental Retardation 		505 98 92 0.12 3 2.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 233 0.12 11 1.8E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 112 0.12 2 1.4E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 126 0.12 2 1.1E-02
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 48 0.12 0 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 9 41 0.12 3 4.8E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 79 0.12 1 1.2E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 85 0.12 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 49 0.11 0 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 39 0.11 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 94 0.11 3 3.0E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 63 0.11 0 0
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		210 0 55 0.11 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 49 0.11 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 134 0.11 0 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		165 13 50 0.11 3 4.5E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 145 0.11 6 1.8E-02
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		360 0 69 0.11 0 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		158 0 49 0.11 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 10 69 0.11 1 1.5E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 75 0.11 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 127 0.11 1 1.6E-03
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 53 0.11 2 2.5E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 76 0.11 1 6.6E-03
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 76 0.11 2 2.0E-02