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: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 112 0.15 2 1.2E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 191 0.14 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 74 0.14 6 5.1E-02
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		360 38 101 0.14 3 2.3E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 277 0.14 19 3.0E-02
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 69 88 0.14 2 1.2E-02
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 78 0.13 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 27 75 0.13 1 8.1E-03
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		133 16 68 0.13 2 1.8E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 149 0.13 9 4.9E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 26 74 0.13 1 8.2E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 115 0.13 16 5.9E-02
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		158 0 69 0.13 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 74 0.13 0 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 25 86 0.13 2 1.7E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 137 0.13 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 137 0.13 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 99 0.12 5 2.4E-02
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 74 0.12 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 64 0.12 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 66 0.12 8 7.0E-02
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 57 0.12 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 64 0.12 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 112 0.12 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 151 0.12 7 1.0E-02