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: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		61 0 27 0.17 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 35 0.17 0 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 21 0.16 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 48 0.16 2 6.1E-02
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		194 0 42 0.15 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 54 0.14 0 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 0 31 0.14 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 39 0.14 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 37 0.14 0 0
CUI: C0001403
Disease: Addison Disease
Addison Disease 		111 0 27 0.13 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 49 0.13 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 27 0.13 0 0
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata 		38 0 18 0.13 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 39 0.13 0 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		58 0 20 0.13 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 23 0.13 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 28 0.13 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 18 0.12 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 21 0.12 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 5 19 0.12 1 8.3E-02
CUI: C2230441
Disease: Triceps weakness
Triceps weakness 		18 0 15 0.12 0 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		74 5 21 0.12 1 8.3E-02
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 36 0.12 0 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		30 0 16 0.12 0 0
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		21 3 15 0.12 1 1.0E-01