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: C0024003
Disease: Lordosis
Lordosis 		160 0 26 0.10 0 0
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		21 43 13 0.10 2 2.6E-02
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 22 9.9E-02 0 0
CUI: C0427064
Disease: Pelvic girdle weakness
Pelvic girdle weakness 		16 0 12 9.8E-02 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 21 9.8E-02 0 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 0 15 9.8E-02 0 0
CUI: C0026848
Disease: Myopathy
Myopathy 		634 166 67 9.8E-02 3 1.5E-02
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
Fatty replacement of skeletal muscle 		17 0 12 9.8E-02 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 18 9.7E-02 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 16 9.7E-02 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		19 0 12 9.6E-02 0 0
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		31 18 13 9.6E-02 1 1.9E-02
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		22 0 12 9.4E-02 0 0
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		86 0 17 9.1E-02 0 0
CUI: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy 		15 4 11 9.0E-02 2 5.1E-02
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		15 0 11 9.0E-02 0 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		56 0 14 8.7E-02 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 17 8.7E-02 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 33 8.4E-02 0 0
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 22 8.4E-02 0 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 0 19 8.3E-02 0 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		117 0 18 8.3E-02 0 0
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		14 15 10 8.2E-02 1 2.0E-02
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		14 16 10 8.2E-02 3 6.0E-02
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		17 0 10 8.0E-02 0 0