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: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 50 7.8E-02 3 2.6E-02
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		53 0 15 7.7E-02 0 0
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		28 0 13 7.6E-02 0 0
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		100 0 18 7.6E-02 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 17 23 7.5E-02 1 2.1E-02
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		32 0 13 7.4E-02 0 0
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		48 144 14 7.4E-02 2 1.1E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 44 7.3E-02 3 3.6E-02
CUI: C0033687
Disease: Proteinuria
Proteinuria 		239 0 26 7.0E-02 0 0
CUI: C1858285
Disease: Decreased number of peripheral myelinated nerve fibers
Decreased number of peripheral myelinated nerve fibers 		28 0 12 7.0E-02 0 0
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		46 0 13 6.9E-02 0 0
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		49 0 13 6.8E-02 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		144 93 19 6.8E-02 1 8.1E-03
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 0 34 6.7E-02 0 0
CUI: C0030552
Disease: Paresis
Paresis 		216 49 23 6.6E-02 3 3.8E-02
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		74 0 14 6.5E-02 0 0
CUI: C0018794
Disease: Heart Block
Heart Block 		58 0 13 6.5E-02 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 23 6.4E-02 0 0
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE 		26 0 11 6.4E-02 0 0
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein 		26 0 11 6.4E-02 0 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 12 6.4E-02 0 0
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		176 0 20 6.4E-02 0 0
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity 		27 0 11 6.4E-02 0 0
CUI: C0011882
Disease: Diabetic Neuropathies
Diabetic Neuropathies 		144 12 18 6.4E-02 1 2.3E-02
CUI: C0344232
Disease: Blurred vision
Blurred vision 		28 0 11 6.4E-02 0 0