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: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 40 0.13 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 3 24 0.12 2 1.6E-02
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		125 0 34 0.12 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 83 0.12 2 1.2E-02
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		192 65 41 0.12 2 1.1E-02
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		63 32 27 0.12 2 1.3E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 48 0.12 3 1.5E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 44 0.12 1 6.6E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 69 0.12 0 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		210 0 41 0.12 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 41 0.11 0 0
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		57 43 25 0.11 3 1.8E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 32 0.11 1 6.6E-03
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		46 2 23 0.11 1 7.9E-03
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 40 0.11 2 1.3E-02
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		533 0 70 0.11 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 29 0.11 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 52 69 0.11 1 5.6E-03
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 49 0.11 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 69 0.11 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 71 0.11 1 3.2E-03
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 0 44 0.11 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 108 0.10 5 1.8E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 54 0.10 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 0 32 0.10 0 0