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: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 39 0.45 0 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 0 39 0.40 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 42 0.36 0 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 39 0.32 0 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 43 0.27 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 46 0.27 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 59 0.26 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 41 0.23 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 7 42 0.22 1 0.12
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 0 47 0.21 0 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		158 0 41 0.20 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 23 0.20 0 0
CUI: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		19 0 17 0.20 0 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		21 0 17 0.19 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 0 39 0.18 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 45 0.18 0 0
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		34 0 17 0.17 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 51 0.17 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 14 0.16 0 0
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		210 0 40 0.16 0 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		210 0 40 0.16 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		19 0 14 0.16 0 0
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		19 0 14 0.16 0 0
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		21 0 14 0.15 0 0
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		14 0 13 0.15 0 0