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: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		34 0 23 0.18 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 28 36 0.16 1 2.0E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 31 0.14 6 8.8E-02
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 19 19 0.14 1 2.4E-02
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		81 0 24 0.14 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 18 0.13 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 16 0.13 0 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		91 0 24 0.13 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 15 0.13 0 0
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		95 0 24 0.13 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 50 0.12 1 9.7E-03
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 32 46 0.12 3 5.7E-02
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		19 0 15 0.12 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 23 0.12 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 27 0.12 6 0.13
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 14 0.12 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 40 0.12 1 9.9E-03
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 26 0.12 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 24 0.12 0 0
CUI: C1844906
Disease: Broad finger
Broad finger 		17 0 14 0.12 0 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		17 0 14 0.12 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 14 0.11 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 39 0.11 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 15 0.11 0 0
CUI: C0020578
Disease: Hyperventilation
Hyperventilation 		31 0 15 0.11 0 0