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: C1321329
Disease: Slowed saccades
Slowed saccades 		29 0 8 0.16 0 0
CUI: C1849156
Disease: Spastic Ataxia
Spastic Ataxia 		28 0 7 0.14 0 0
CUI: C0751603
Disease: Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Hereditary Spastic Paraplegia 		20 0 6 0.14 0 0
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		39 0 8 0.13 0 0
CUI: C4755264
Disease: Severe intellectual disability and progressive spastic paraplegia
Severe intellectual disability and progressive spastic paraplegia 		5 0 4 0.13 0 0
CUI: C0037020
Disease: Shyness
Shyness 		9 0 4 0.11 0 0
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		20 0 5 0.11 0 0
CUI: C4023698
Disease: Everted upper lip vermilion
Everted upper lip vermilion 		12 0 4 0.11 0 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		123 0 14 0.10 0 0
CUI: C1273957
Disease: Upper limb spasticity
Upper limb spasticity 		14 0 4 1.0E-01 0 0
CUI: C3151056
Disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE 		3 0 3 1.0E-01 0 0
CUI: C3279743
Disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE 		3 0 3 1.0E-01 0 0
CUI: C0233844
Disease: Clumsiness
Clumsiness 		48 0 7 9.9E-02 0 0
CUI: C0542223
Disease: Loss of speech
Loss of speech 		37 0 6 9.8E-02 0 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 0 7 9.6E-02 0 0
CUI: C0231687
Disease: Spastic gait
Spastic gait 		62 9 8 9.5E-02 1 0.11
CUI: C1836392
Disease: Dysmetric saccades
Dysmetric saccades 		18 0 4 9.1E-02 0 0
CUI: C1720037
Disease: Supranuclear gaze palsy
Supranuclear gaze palsy 		19 0 4 8.9E-02 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		144 0 14 8.7E-02 0 0
CUI: C0239882
Disease: Head tremor
Head tremor 		21 0 4 8.5E-02 0 0
CUI: C4553976
Disease: Urinary Urgency, CTCAE 5
Urinary Urgency, CTCAE 5 		34 0 5 8.5E-02 0 0
CUI: C0158486
Disease: Acquired genu recurvatum
Acquired genu recurvatum 		23 0 4 8.2E-02 0 0
CUI: C1855568
Disease: Jerky head movements
Jerky head movements 		10 0 3 8.1E-02 0 0
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs 		24 0 4 8.0E-02 0 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		38 0 5 7.9E-02 0 0