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: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 50 0.13 1 8.0E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 57 0.13 1 1.3E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 62 0.13 1 1.5E-02
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 41 0.13 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 0 34 0.11 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 55 0.11 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 52 0.11 1 3.8E-03
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 0 54 0.11 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 57 0.11 0 0
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		167 37 31 0.10 2 3.6E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 40 0.10 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 60 0.10 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 51 1.0E-01 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 24 26 1.0E-01 2 4.8E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 45 9.9E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 65 9.8E-02 2 9.5E-03
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		108 0 24 9.5E-02 0 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		109 0 24 9.5E-02 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 16 9.4E-02 0 0
CUI: C0004158
Disease: Athetosis
Athetosis 		39 3 17 8.9E-02 1 4.5E-02
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 28 25 8.6E-02 1 2.1E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 55 8.4E-02 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 30 8.4E-02 0 0
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		80 0 19 8.3E-02 0 0
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		95 0 20 8.2E-02 0 0