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: C1850855
Disease: Increased laxity of fingers
Increased laxity of fingers 		4 0 4 0.40 0 0
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists 		5 0 4 0.36 0 0
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis 		7 0 4 0.31 0 0
CUI: C4551860
Disease: Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 		7 0 4 0.31 0 0
CUI: C1611706
Disease: Myosclerosis
Myosclerosis 		3 0 3 0.30 0 0
CUI: C1850851
Disease: Distal joint laxity
Distal joint laxity 		3 0 3 0.30 0 0
CUI: C4225636
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT 		3 0 3 0.30 0 0
CUI: C0521532
Disease: Diaphragmatic paresis
Diaphragmatic paresis 		8 0 4 0.29 0 0
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		17 0 6 0.29 0 0
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles 		5 0 3 0.25 0 0
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI 		5 0 3 0.25 0 0
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		17 0 5 0.23 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 4 0.20 0 0
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		28 0 6 0.19 0 0
CUI: C4025576
Disease: EMG: myotonic runs
EMG: myotonic runs 		3 0 2 0.18 0 0
CUI: C0334013
Disease: Phrynoderma
Phrynoderma 		19 0 4 0.16 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 8 0.15 0 0
CUI: C1857482
Disease: Slender finger
Slender finger 		20 0 4 0.15 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 5 0.15 0 0
CUI: C3163798
Disease: Recurrent lower respiratory tract infection
Recurrent lower respiratory tract infection 		23 0 4 0.14 0 0
CUI: C3150613
Disease: Long toe
Long toe 		24 0 4 0.13 0 0
CUI: C1866021
Disease: Increased connective tissue
Increased connective tissue 		16 0 3 0.13 0 0
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		25 0 4 0.13 0 0
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		26 0 4 0.12 0 0
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		17 0 3 0.12 0 0