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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 154 0.14 5 8.4E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 55 6.7E-02 5 2.4E-02
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		75 37 21 5.7E-02 4 7.1E-02
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		68 13 10 2.7E-02 4 0.12
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		38 6 14 4.2E-02 4 0.16
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 23 5.1E-02 4 1.5E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 55 4.0E-02 3 7.2E-03
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 44 29 5.1E-02 3 4.7E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 80 9.9E-02 3 4.4E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 115 0.11 3 2.6E-02
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		82 19 11 2.9E-02 3 7.7E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 96 0.13 3 2.8E-02
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 14 17 3.9E-02 3 8.8E-02
CUI: C0231687
Disease: Spastic gait
Spastic gait 		62 9 17 4.8E-02 3 0.10
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 16 51 0.11 3 8.3E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 60 8.0E-02 3 3.3E-02
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		15 6 8 2.5E-02 3 0.12
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 4 17 4.9E-02 3 0.12
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 12 34 8.3E-02 3 9.4E-02
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis 		20 17 7 2.2E-02 3 8.1E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 19 4.6E-02 3 3.8E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 19 3.8E-02 3 7.0E-03
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 5 1.5E-02 3 4.5E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 16 3.5E-02 3 6.7E-02
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		9 134 6 1.9E-02 3 1.9E-02