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: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV 		1 3 1 1.00 2 0.25
CUI: C4022492
Disease: Increased mitochondrial number
Increased mitochondrial number 		2 0 1 0.50 0 0
CUI: C4022979
Disease: Decreased muscle glycogen content
Decreased muscle glycogen content 		2 0 1 0.50 0 0
CUI: C1404521
Disease: Limb-girdle myopathy
Limb-girdle myopathy 		3 0 1 0.33 0 0
CUI: C4227331
Disease: Cardiomyocyte hypertrophy
Cardiomyocyte hypertrophy 		3 0 1 0.33 0 0
CUI: C0520888
Disease: Inverted T wave
Inverted T wave 		4 0 1 0.25 0 0
CUI: C0344955
Disease: Ventricular septal hypertrophy
Ventricular septal hypertrophy 		8 0 1 0.12 0 0
CUI: C0741933
Disease: cardiac symptom
cardiac symptom 		9 0 1 0.11 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		9 0 1 0.11 0 0
CUI: C0344424
Disease: Ventricular Arrhythmia by ECG Finding
Ventricular Arrhythmia by ECG Finding 		17 0 1 5.9E-02 0 0
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0 		17 0 1 5.9E-02 0 0
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0 		17 0 1 5.9E-02 0 0
CUI: C0520886
Disease: ST segment elevation (finding)
ST segment elevation (finding) 		23 0 1 4.3E-02 0 0
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		29 0 1 3.4E-02 0 0
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		29 0 1 3.4E-02 0 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		30 0 1 3.3E-02 0 0
CUI: C0085615
Disease: Right bundle branch block
Right bundle branch block 		39 0 1 2.6E-02 0 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 0 1 2.6E-02 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 1 2.4E-02 0 0
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		44 0 1 2.3E-02 0 0
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		51 0 1 2.0E-02 0 0
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		56 0 1 1.8E-02 0 0
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		60 0 1 1.7E-02 0 0
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		63 0 1 1.6E-02 0 0
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE 		64 0 1 1.6E-02 0 0