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: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		49 0 13 1.0E-01 0 0
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		116 15 19 9.9E-02 1 3.8E-02
CUI: C4025614
Disease: EMG: chronic denervation signs
EMG: chronic denervation signs 		18 0 10 9.8E-02 0 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 12 9.7E-02 0 0
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		351 0 39 9.6E-02 0 0
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		33 0 11 9.5E-02 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 27 9.5E-02 0 0
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		46 0 12 9.4E-02 0 0
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		50 0 12 9.1E-02 0 0
CUI: C0231687
Disease: Spastic gait
Spastic gait 		62 0 13 9.1E-02 0 0
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		75 37 14 9.0E-02 5 0.11
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		27 0 10 9.0E-02 0 0
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		28 0 10 8.9E-02 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 26 8.9E-02 0 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		549 0 51 8.6E-02 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 14 8.5E-02 0 0
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		50 0 11 8.3E-02 0 0
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		24 0 9 8.3E-02 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 0 11 8.2E-02 0 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		38 0 10 8.2E-02 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 0 20 8.1E-02 0 0
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		26 0 9 8.1E-02 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 14 8.0E-02 0 0
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		95 0 14 8.0E-02 0 0
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		28 0 9 8.0E-02 0 0