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: C1840365
Disease: King Denborough syndrome
King Denborough syndrome 		1 0 1 0.33 0 0
CUI: C1847532
Disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET 		1 0 1 0.33 0 0
CUI: C1861753
Disease: Multiminicore Disease, Moderate, with Hand Involvement
Multiminicore Disease, Moderate, with Hand Involvement 		1 0 1 0.33 0 0
CUI: C2083352
Disease: Rectus femoris muscle atrophy
Rectus femoris muscle atrophy 		1 0 1 0.33 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 0.33 0 0
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		1 0 1 0.33 0 0
CUI: C3277187
Disease: Type 2 muscle fiber predominance
Type 2 muscle fiber predominance 		1 0 1 0.33 0 0
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		1 7 1 0.33 1 0.14
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		1 0 1 0.33 0 0
CUI: C4016368
Disease: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE 		1 0 1 0.33 0 0
CUI: C4022631
Disease: Absent muscle fiber dysferlin
Absent muscle fiber dysferlin 		1 0 1 0.33 0 0
CUI: C4022667
Disease: Small toe
Small toe 		1 0 1 0.33 0 0
CUI: C4476998
Disease: Frog-leg posture
Frog-leg posture 		1 0 1 0.33 0 0
CUI: C4706390
Disease: Congenital myopathy with myasthenic-like onset
Congenital myopathy with myasthenic-like onset 		1 0 1 0.33 0 0
CUI: C4749502
Disease: Benign Samaritan congenital myopathy
Benign Samaritan congenital myopathy 		1 0 1 0.33 0 0
CUI: C0155338
Disease: Total ophthalmoplegia
Total ophthalmoplegia 		2 0 1 0.25 0 0
CUI: C0263992
Disease: Exertional rhabdomyolysis (disorder)
Exertional rhabdomyolysis (disorder) 		2 0 1 0.25 0 0
CUI: C0586738
Disease: Calf muscle weakness
Calf muscle weakness 		2 0 1 0.25 0 0
CUI: C0700251
Disease: Brachial Plexus Neuropathies
Brachial Plexus Neuropathies 		2 0 1 0.25 0 0
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		2 9 1 0.25 1 0.11
CUI: C4021979
Disease: Muscular edema
Muscular edema 		2 0 1 0.25 0 0
CUI: C4022568
Disease: Central core regions in muscle fibers
Central core regions in muscle fibers 		2 0 1 0.25 0 0
CUI: C4024170
Disease: Localized hirsutism
Localized hirsutism 		2 0 1 0.25 0 0
CUI: C4025568
Disease: Type 1 and type 2 muscle fiber minicore regions
Type 1 and type 2 muscle fiber minicore regions 		2 0 1 0.25 0 0
CUI: C4073214
Disease: Abnormality of masseter muscle
Abnormality of masseter muscle 		2 0 1 0.25 0 0