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: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 84 0.31 0 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		74 0 44 0.28 0 0
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		83 0 45 0.27 0 0
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		106 0 46 0.24 0 0
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		165 0 45 0.18 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 25 0.15 0 0
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		226 0 47 0.15 0 0
CUI: C0026848
Disease: Myopathy
Myopathy 		634 0 97 0.15 0 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		54 0 23 0.14 0 0
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		48 0 22 0.14 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 31 0.14 0 0
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		64 0 23 0.13 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 50 0.13 0 0
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata 		38 0 19 0.13 0 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		61 0 21 0.12 0 0
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		133 0 27 0.11 0 0
CUI: C0018794
Disease: Heart Block
Heart Block 		58 0 19 0.11 0 0
CUI: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left 		88 0 22 0.11 0 0
CUI: C0009024
Disease: Clonus
Clonus 		60 0 19 0.11 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 0 21 0.11 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 0 28 0.11 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 19 0.11 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		512 0 63 0.11 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 65 0.11 1 1.0E-02
CUI: C0234428
Disease: Disturbance of consciousness
Disturbance of consciousness 		35 0 16 0.11 0 0