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: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		512 509 26 4.9E-02 1 1.9E-03
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		375 170 17 4.2E-02 1 5.7E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		634 166 37 5.8E-02 1 5.9E-03
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		18 146 9 0.16 1 6.7E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 33 6.0E-02 2 2.2E-02
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		280 67 30 0.10 2 2.9E-02
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 43 34 0.14 2 4.3E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 29 7.2E-02 2 5.4E-02
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 25 0.10 1 2.9E-02
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		18 27 2 3.2E-02 1 3.2E-02
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		54 20 19 0.23 1 4.2E-02
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		20 19 1 1.5E-02 1 4.3E-02
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 30 0.23 2 0.11
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 15 7 8.4E-02 1 5.3E-02
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		74 15 7 6.2E-02 1 5.3E-02
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		73 14 12 0.11 1 5.6E-02
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 12 16 1.0E-01 1 6.2E-02
CUI: C0037763
Disease: Spasm
Spasm 		172 9 12 5.8E-02 1 7.7E-02
CUI: C0030554
Disease: Paresthesia
Paresthesia 		121 8 4 2.5E-02 1 8.3E-02
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 8 20 0.25 1 8.3E-02
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		15 6 1 1.7E-02 1 1.0E-01
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		33 5 4 5.3E-02 1 0.11
CUI: C4021727
Disease: EMG: neuropathic changes
EMG: neuropathic changes 		28 5 4 5.7E-02 1 0.11
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 4 7 9.0E-02 1 0.12
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 4 14 0.11 1 0.12