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: C3536714
Disease: Renal dysplasia
Renal dysplasia 		95 3 81 0.85 3 1.00
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		34 0 22 0.24 0 0
CUI: C0041960
Disease: Ureterocele
Ureterocele 		26 0 18 0.20 0 0
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 14 0.17 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 14 0.17 0 0
CUI: C1844906
Disease: Broad finger
Broad finger 		17 0 14 0.17 0 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		17 0 14 0.17 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 14 0.16 0 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		19 0 14 0.16 0 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		23 0 14 0.16 0 0
CUI: C4049830
Disease: Focal seizures, afebril
Focal seizures, afebril 		25 0 14 0.15 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 14 0.14 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 14 0.14 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 24 0.14 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 0 14 0.14 0 0
CUI: C0239594
Disease: Short finger
Short finger 		37 0 14 0.13 0 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		39 0 14 0.13 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 20 0.11 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 18 0.10 0 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		91 0 15 9.6E-02 0 0
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		81 0 14 9.5E-02 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 15 9.4E-02 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 16 9.0E-02 0 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 0 11 8.9E-02 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 24 8.8E-02 0 0