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: C4073214
Disease: Abnormality of masseter muscle
Abnormality of masseter muscle 		2 0 2 0.40 0 0
CUI: C4531203
Disease: Cardiomyocyte mitochondrial proliferation
Cardiomyocyte mitochondrial proliferation 		2 0 2 0.40 0 0
CUI: C0742747
Disease: High-output congestive heart failure
High-output congestive heart failure 		3 0 2 0.33 0 0
CUI: C4023104
Disease: Intermittent painful muscle spasms
Intermittent painful muscle spasms 		3 0 2 0.33 0 0
CUI: C0027080
Disease: Myoglobinuria
Myoglobinuria 		17 1 4 0.22 1 0.50
CUI: C4021526
Disease: Exercise-induced rhabdomyolysis
Exercise-induced rhabdomyolysis 		6 0 2 0.22 0 0
CUI: C4025572
Disease: Episodic flaccid weakness
Episodic flaccid weakness 		6 2 2 0.22 2 1.00
CUI: C1840365
Disease: King Denborough syndrome
King Denborough syndrome 		1 0 1 0.20 0 0
CUI: C1849386
Disease: Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute Recurrent, Autosomal Recessive 		1 0 1 0.20 0 0
CUI: C1861753
Disease: Multiminicore Disease, Moderate, with Hand Involvement
Multiminicore Disease, Moderate, with Hand Involvement 		1 0 1 0.20 0 0
CUI: C1866077
Disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		1 0 1 0.20 0 0
CUI: C1963250
Disease: Torsade de Pointes, CTCAE
Torsade de Pointes, CTCAE 		1 1 1 0.20 1 0.50
CUI: C2083352
Disease: Rectus femoris muscle atrophy
Rectus femoris muscle atrophy 		1 0 1 0.20 0 0
CUI: C2674259
Disease: NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)
NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder) 		1 0 1 0.20 0 0
CUI: C2749982
Disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 		1 0 1 0.20 0 0
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		1 0 1 0.20 0 0
CUI: C2930984
Disease: Malignant hyperthermia susceptibility type 5
Malignant hyperthermia susceptibility type 5 		1 0 1 0.20 0 0
CUI: C4016368
Disease: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE 		1 0 1 0.20 0 0
CUI: C4024700
Disease: Elevated creatine kinase after exercise
Elevated creatine kinase after exercise 		7 0 2 0.20 0 0
CUI: C4024898
Disease: Atrophy/Degeneration affecting the cerebrum
Atrophy/Degeneration affecting the cerebrum 		1 1 1 0.20 1 0.50
CUI: C4225171
Disease: METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION 		1 6 1 0.20 2 0.33
CUI: C4476998
Disease: Frog-leg posture
Frog-leg posture 		1 0 1 0.20 0 0
CUI: C4706390
Disease: Congenital myopathy with myasthenic-like onset
Congenital myopathy with myasthenic-like onset 		1 0 1 0.20 0 0
CUI: C4749502
Disease: Benign Samaritan congenital myopathy
Benign Samaritan congenital myopathy 		1 0 1 0.20 0 0
CUI: C4751572
Disease: Periodic paralysis with transient compartment-like syndrome
Periodic paralysis with transient compartment-like syndrome 		1 0 1 0.20 0 0