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: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 107 0.19 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 108 0.18 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 57 0.17 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 71 0.17 1 2.6E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 98 0.15 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 110 0.15 1 1.7E-02
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 0 52 0.14 0 0
CUI: C0018524
Disease: Hallucinations
Hallucinations 		178 0 54 0.14 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 79 0.14 1 1.6E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 71 0.13 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 18 52 0.13 1 3.3E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 94 0.13 1 1.6E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 145 0.12 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 74 0.12 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 70 0.12 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 61 0.12 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 58 0.12 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 108 0.11 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 108 0.11 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 113 0.11 1 9.3E-03
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 74 0.11 3 5.6E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 126 0.11 2 3.4E-03
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 82 0.11 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 99 0.11 1 9.9E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 70 0.11 0 0