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: C1970211
Disease: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		1 0 1 1.00 0 0
CUI: C3809309
Disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C 		1 0 1 1.00 0 0
CUI: C4749820
Disease: Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive lower motor neuron disease with childhood onset 		1 0 1 1.00 0 0
CUI: C1842162
Disease: Scapuloperoneal amyotrophy
Scapuloperoneal amyotrophy 		4 0 1 0.25 0 0
CUI: C1859606
Disease: Decreased number of large peripheral myelinated nerve fibers
Decreased number of large peripheral myelinated nerve fibers 		14 0 1 7.1E-02 0 0
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy 		16 0 1 6.2E-02 0 0
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower 		23 0 1 4.3E-02 0 0
CUI: C1865412
Disease: Abnormal lower motor neuron morphology
Abnormal lower motor neuron morphology 		23 0 1 4.3E-02 0 0
CUI: C4021727
Disease: EMG: neuropathic changes
EMG: neuropathic changes 		28 0 1 3.6E-02 0 0
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		38 0 1 2.6E-02 0 0
CUI: C1858729
Disease: Decreased motor nerve conduction velocity
Decreased motor nerve conduction velocity 		41 0 1 2.4E-02 0 0
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		46 0 1 2.2E-02 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 0 1 2.0E-02 0 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		55 0 1 1.8E-02 0 0
CUI: C1837352
Disease: Childhood onset
Childhood onset 		56 0 1 1.8E-02 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 1 1.2E-02 0 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		86 0 1 1.2E-02 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		106 0 1 9.4E-03 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 1 8.9E-03 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 1 8.8E-03 0 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		117 0 1 8.5E-03 0 0
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries 		144 0 1 6.9E-03 0 0
CUI: C0024003
Disease: Lordosis
Lordosis 		160 0 1 6.3E-03 0 0
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		186 0 1 5.4E-03 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 1 5.0E-03 0 0