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: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		22 3 18 0.53 2 0.40
CUI: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy 		15 4 10 0.29 2 0.33
CUI: C1866013
Disease: Proximal upper limb amyotrophy
Proximal upper limb amyotrophy 		9 0 7 0.22 0 0
CUI: C4022628
Disease: Absent muscle fiber emerin
Absent muscle fiber emerin 		6 0 6 0.20 0 0
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia 		37 0 11 0.20 0 0
CUI: C0232216
Disease: Ventricular escape rhythm
Ventricular escape rhythm 		7 0 6 0.19 0 0
CUI: C1839653
Disease: Decreased cervical spine flexion due to contractures of posterior cervical muscles
Decreased cervical spine flexion due to contractures of posterior cervical muscles 		7 0 6 0.19 0 0
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		20 0 8 0.19 0 0
CUI: C0231531
Disease: Muscle fibrillation
Muscle fibrillation 		8 0 6 0.19 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 5 12 0.19 1 0.12
CUI: C4025785
Disease: Abnormality of the foot musculature
Abnormality of the foot musculature 		8 0 6 0.19 0 0
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy 		16 0 7 0.18 0 0
CUI: C0560346
Disease: Difficulty running
Difficulty running 		38 0 10 0.17 0 0
CUI: C0428975
Disease: Supraventricular Arrhythmia by ECG Finding
Supraventricular Arrhythmia by ECG Finding 		11 0 6 0.17 0 0
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		25 0 8 0.17 0 0
CUI: C0027125
Disease: Myotonia
Myotonia 		19 0 7 0.17 0 0
CUI: C1450051
Disease: Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 		5 0 5 0.17 0 0
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		12 0 6 0.17 0 0
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		20 0 7 0.16 0 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		28 0 8 0.16 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 14 0.16 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 8 0.16 0 0
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		16 0 6 0.15 0 0
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		24 0 7 0.15 0 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		32 0 8 0.15 0 0