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: C0239594
Disease: Short finger
Short finger 		37 0 36 0.90 0 0
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 14 0.36 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 14 0.35 0 0
CUI: C1844906
Disease: Broad finger
Broad finger 		17 0 14 0.33 0 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		17 0 14 0.33 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 14 0.33 0 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		19 0 14 0.32 0 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		23 0 14 0.29 0 0
CUI: C4049830
Disease: Focal seizures, afebril
Focal seizures, afebril 		25 0 14 0.28 0 0
CUI: C0041960
Disease: Ureterocele
Ureterocele 		26 0 14 0.27 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 15 0.26 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 14 0.25 0 0
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		34 0 14 0.24 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 0 14 0.23 0 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		91 0 16 0.14 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 16 0.14 0 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 0 11 0.14 0 0
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		81 0 14 0.13 0 0
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		81 0 14 0.13 0 0
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		95 0 14 0.12 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 15 0.11 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 16 0.11 0 0
CUI: C1836195
Disease: Short toe
Short toe 		56 3 9 0.10 1 0.20
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 14 0.10 0 0
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		16 0 5 1.0E-01 0 0