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: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 116 0.29 0 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		117 0 61 0.24 0 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 76 0.22 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		106 7 55 0.22 2 9.5E-02
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		86 0 49 0.21 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 11 53 0.20 2 8.0E-02
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		70 0 45 0.20 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 66 0.18 2 4.5E-02
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 56 0.18 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 9 42 0.18 3 0.14
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 12 76 0.18 3 0.12
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 44 0.16 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 43 0.16 3 0.10
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 58 0.16 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 34 0.16 1 4.5E-02
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		208 0 55 0.16 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 51 0.15 0 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		94 0 38 0.15 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 42 0.15 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 94 0.15 6 6.2E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 74 0.14 1 2.0E-02
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 8 32 0.14 2 9.1E-02
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 73 0.14 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 39 0.14 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 36 0.14 0 0