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: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 0 11 0.14 0 0
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		14 0 6 0.14 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		14 0 6 0.14 0 0
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		14 0 6 0.14 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		15 0 6 0.14 0 0
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		81 0 14 0.14 0 0
CUI: C2750913
Disease: Neuronal loss in basal ganglia
Neuronal loss in basal ganglia 		8 0 5 0.14 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		17 0 6 0.13 0 0
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		17 0 6 0.13 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 15 0.13 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 19 0.13 0 0
CUI: C1851959
Disease: Fluctuations in consciousness
Fluctuations in consciousness 		10 0 5 0.13 0 0
CUI: C2750915
Disease: Basal ganglia gliosis
Basal ganglia gliosis 		10 0 5 0.13 0 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology 		10 0 5 0.13 0 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology 		10 0 5 0.13 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		19 0 6 0.13 0 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		91 0 14 0.13 0 0
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements 		11 0 5 0.12 0 0
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		11 0 5 0.12 0 0
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		21 0 6 0.12 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		23 0 6 0.12 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 15 0.11 0 0
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle 		5 0 4 0.11 0 0
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		16 0 5 0.11 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 5 0.11 0 0