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: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 14 0.41 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 14 0.40 0 0
CUI: C1844906
Disease: Broad finger
Broad finger 		17 0 14 0.38 0 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		17 0 14 0.38 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 14 0.37 0 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		19 0 14 0.36 0 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		23 0 14 0.33 0 0
CUI: C4049830
Disease: Focal seizures, afebril
Focal seizures, afebril 		25 0 14 0.31 0 0
CUI: C0041960
Disease: Ureterocele
Ureterocele 		26 0 14 0.30 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 14 0.28 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 0 15 0.27 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 14 0.26 0 0
CUI: C0239594
Disease: Short finger
Short finger 		37 0 14 0.25 0 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		39 0 14 0.24 0 0
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		81 0 22 0.24 0 0
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		95 0 22 0.21 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 23 0.18 0 0
CUI: C1866131
Disease: Fusion of the cerebellar hemispheres
Fusion of the cerebellar hemispheres 		6 0 6 0.18 0 0
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		13 0 7 0.17 0 0
CUI: C4022762
Disease: Elevated brain lactate level by MRS
Elevated brain lactate level by MRS 		7 2 6 0.17 1 0.20
CUI: C4022771
Disease: Decreased thalamic volume
Decreased thalamic volume 		7 0 6 0.17 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 1 6 0.16 1 0.25
CUI: C4015098
Disease: Hypoglycosylation of alpha-dystroglycan
Hypoglycosylation of alpha-dystroglycan 		10 0 6 0.16 0 0
CUI: C4022646
Disease: Reduced muscle fiber alpha dystroglycan
Reduced muscle fiber alpha dystroglycan 		10 0 6 0.16 0 0
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia 		11 0 6 0.15 0 0