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: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 28 6.6E-02 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 13 25 6.4E-02 2 1.9E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 37 6.3E-02 0 0
CUI: C0030486
Disease: Paraplegia
Paraplegia 		59 0 12 6.3E-02 0 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 0 16 6.3E-02 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 20 6.2E-02 0 0
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		29 0 10 6.1E-02 0 0
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		186 0 19 6.1E-02 0 0
CUI: C1273957
Disease: Upper limb spasticity
Upper limb spasticity 		14 0 9 6.0E-02 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 0 20 6.0E-02 0 0
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		16 10 9 6.0E-02 5 5.1E-02
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 26 5.9E-02 0 0
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		53 0 11 5.9E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 28 5.9E-02 3 8.9E-03
CUI: C0542223
Disease: Loss of speech
Loss of speech 		37 0 10 5.8E-02 0 0
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		19 0 9 5.8E-02 0 0
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		20 0 9 5.8E-02 0 0
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum 		21 0 9 5.8E-02 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 0 29 5.8E-02 0 0
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		60 0 11 5.7E-02 0 0
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy 		23 0 9 5.7E-02 0 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		117 0 14 5.7E-02 0 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		549 0 37 5.6E-02 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 0 16 5.6E-02 0 0
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		8 0 8 5.6E-02 0 0