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: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 43 90 0.20 1 1.9E-02
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 69 0.19 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 69 0.19 0 0
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		60 0 57 0.18 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 96 0.18 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 16 76 0.18 3 0.12
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 126 0.18 3 3.1E-02
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		319 0 87 0.16 0 0
CUI: C0037763
Disease: Spasm
Spasm 		172 9 64 0.15 3 0.17
CUI: C0026848
Disease: Myopathy
Myopathy 		634 166 125 0.15 1 5.6E-03
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 33 62 0.14 1 2.3E-02
CUI: C0522224
Disease: Paralysed
Paralysed 		68 0 44 0.13 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 81 0.13 2 3.3E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 104 0.13 2 3.0E-02
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 48 0.13 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 49 0.13 0 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 0 50 0.13 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 71 0.13 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 103 0.13 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 54 0.12 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 68 0.12 0 0
CUI: C0043352
Disease: Xerostomia
Xerostomia 		56 0 39 0.12 0 0
CUI: C0023066
Disease: Laryngospasm
Laryngospasm 		48 0 38 0.12 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 56 0.12 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 74 0.12 1 2.2E-02