Source: CLINVAR ×
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: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		15 0 5 0.15 0 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		13 16 4 0.12 1 1.5E-02
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		5 13 3 0.12 1 1.6E-02
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		6 138 3 0.11 5 2.7E-02
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		6 0 3 0.11 0 0
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		6 0 3 0.11 0 0
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		7 0 3 0.11 0 0
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		9 0 3 1.0E-01 0 0
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		11 77 3 9.4E-02 3 2.4E-02
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		13 0 3 8.8E-02 0 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		14 17 3 8.6E-02 1 1.5E-02
CUI: C4016264
Disease: DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT 		2 0 2 8.3E-02 0 0
CUI: C4021779
Disease: Abnormality of the calf musculature
Abnormality of the calf musculature 		2 0 2 8.3E-02 0 0
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
Charcot-Marie-Tooth disease, Type 2B1 		3 6 2 8.0E-02 2 3.6E-02
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		4 0 2 7.7E-02 0 0
CUI: C1836609
Disease: Progressive distal muscle weakness
Progressive distal muscle weakness 		4 0 2 7.7E-02 0 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		4 0 2 7.7E-02 0 0
CUI: C4021727
Disease: EMG: neuropathic changes
EMG: neuropathic changes 		4 0 2 7.7E-02 0 0
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		5 84 2 7.4E-02 4 3.0E-02
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		20 0 3 7.3E-02 0 0
CUI: C0024003
Disease: Lordosis
Lordosis 		9 0 2 6.5E-02 0 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		9 0 2 6.5E-02 0 0
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		10 0 2 6.2E-02 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		10 0 2 6.2E-02 0 0
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		11 38 2 6.1E-02 4 4.7E-02