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: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		19 0 8 0.13 0 0
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		31 18 9 0.12 1 4.5E-02
CUI: C3150620
Disease: Distal upper limb muscle weakness
Distal upper limb muscle weakness 		13 3 7 0.12 2 0.33
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 23 0.12 0 0
CUI: C4025614
Disease: EMG: chronic denervation signs
EMG: chronic denervation signs 		18 0 7 0.11 0 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		28 0 8 0.11 0 0
CUI: C4021727
Disease: EMG: neuropathic changes
EMG: neuropathic changes 		28 0 8 0.11 0 0
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb 		42 0 9 0.11 0 0
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		64 20 11 0.11 1 4.2E-02
CUI: C2932678
Disease: Inherited Peripheral Neuropathy
Inherited Peripheral Neuropathy 		14 0 6 0.10 0 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		93 21 13 9.9E-02 2 8.3E-02
CUI: C0221373
Disease: Claw hand
Claw hand 		63 0 10 9.6E-02 0 0
CUI: C1832776
Disease: Hypertrophic nerve changes
Hypertrophic nerve changes 		6 0 5 9.6E-02 0 0
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs 		19 0 6 9.4E-02 0 0
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		21 0 6 9.1E-02 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 29 8.7E-02 0 0
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		12 0 5 8.6E-02 0 0
CUI: C0239831
Disease: Hand muscle weakness
Hand muscle weakness 		14 0 5 8.3E-02 0 0
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		14 0 5 8.3E-02 0 0
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis 		42 0 7 8.1E-02 0 0
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		42 0 7 8.1E-02 0 0
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		29 3 6 8.1E-02 1 0.14
CUI: C0231689
Disease: Gait, Athetotic
Gait, Athetotic 		4 0 4 7.8E-02 0 0
CUI: C0231693
Disease: Charcot Gait
Charcot Gait 		4 0 4 7.8E-02 0 0
CUI: C0231694
Disease: Gait, Festinating
Gait, Festinating 		4 0 4 7.8E-02 0 0