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: C1611706
Disease: Myosclerosis
Myosclerosis 		3 0 3 1.00 0 0
CUI: C1850851
Disease: Distal joint laxity
Distal joint laxity 		3 0 3 1.00 0 0
CUI: C1850855
Disease: Increased laxity of fingers
Increased laxity of fingers 		4 0 3 0.75 0 0
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists 		5 0 3 0.60 0 0
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles 		5 0 3 0.60 0 0
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI 		5 0 3 0.60 0 0
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis 		7 0 3 0.43 0 0
CUI: C4551860
Disease: Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 		7 0 3 0.43 0 0
CUI: C0521532
Disease: Diaphragmatic paresis
Diaphragmatic paresis 		8 0 3 0.38 0 0
CUI: C1850671
Disease: Myosclerosis, Autosomal Recessive
Myosclerosis, Autosomal Recessive 		1 0 1 0.33 0 0
CUI: C2937300
Disease: Congenital hereditary muscular dystrophy
Congenital hereditary muscular dystrophy 		1 0 1 0.33 0 0
CUI: C3805692
Disease: Hyperpigmented nevi and streak
Hyperpigmented nevi and streak 		1 0 1 0.33 0 0
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27 		1 0 1 0.33 0 0
CUI: C4225638
Disease: BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE
BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE 		1 0 1 0.33 0 0
CUI: C4022161
Disease: Increased endomysial connective tissue
Increased endomysial connective tissue 		10 0 3 0.30 0 0
CUI: C0013570
Disease: Ecthyma, Contagious
Ecthyma, Contagious 		2 0 1 0.25 0 0
CUI: C4021663
Disease: Abnormality of muscle fibers
Abnormality of muscle fibers 		2 0 1 0.25 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 3 0.21 0 0
CUI: C0085639
Disease: Falls
Falls 		3 0 1 0.20 0 0
CUI: C0333759
Disease: Muscle fiber hypertrophy
Muscle fiber hypertrophy 		3 0 1 0.20 0 0
CUI: C1837407
Disease: Ankle contracture
Ankle contracture 		3 0 1 0.20 0 0
CUI: C1867006
Disease: Restricted neck movement due to contractures
Restricted neck movement due to contractures 		3 0 1 0.20 0 0
CUI: C3149494
Disease: KELOID FORMATION
KELOID FORMATION 		3 0 1 0.20 0 0
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		17 34 3 0.18 4 0.12
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		17 108 3 0.18 4 3.7E-02