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: C0023787
Disease: Lipodystrophy
Lipodystrophy 		226 0 56 0.14 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 35 0.14 0 0
CUI: C0030552
Disease: Paresis
Paresis 		216 0 54 0.14 0 0
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		165 0 47 0.14 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 49 0.14 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		512 0 88 0.13 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 33 0.13 0 0
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		133 0 42 0.13 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 52 0.13 4 5.8E-02
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 4 37 0.13 1 2.2E-02
CUI: C0037763
Disease: Spasm
Spasm 		172 0 45 0.13 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 39 0.13 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 0 42 0.12 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 60 0.12 0 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		117 16 38 0.12 1 1.7E-02
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 3 29 0.12 1 2.2E-02
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		70 0 32 0.12 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 38 0.12 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 37 0.12 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 32 0.12 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 30 0.11 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 55 0.11 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 77 0.11 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 59 0.11 0 0
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		46 0 26 0.10 0 0