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: C1854882
Disease: Absent speech
Absent speech 		232 0 36 0.10 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 26 0.10 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 34 9.9E-02 0 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		210 0 32 9.8E-02 0 0
CUI: C0020578
Disease: Hyperventilation
Hyperventilation 		31 0 16 9.8E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 47 9.7E-02 0 0
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		34 0 16 9.6E-02 0 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		23 0 15 9.6E-02 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 0 16 9.5E-02 0 0
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 14 9.4E-02 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 14 9.3E-02 0 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		39 0 16 9.3E-02 0 0
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		16 0 14 9.3E-02 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 19 9.3E-02 0 0
CUI: C1844906
Disease: Broad finger
Broad finger 		17 0 14 9.2E-02 0 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		17 0 14 9.2E-02 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 14 9.2E-02 0 0
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		139 0 24 9.1E-02 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 20 9.0E-02 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 0 25 8.9E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 49 8.9E-02 1 8.1E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 47 8.9E-02 0 0
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		73 23 18 8.8E-02 1 2.0E-02
CUI: C0239594
Disease: Short finger
Short finger 		37 0 15 8.8E-02 0 0
CUI: C0041960
Disease: Ureterocele
Ureterocele 		26 0 14 8.7E-02 0 0