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: C4551860
Disease: Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 		7 0 7 0.41 0 0
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		17 108 7 0.26 9 6.8E-02
CUI: C1850855
Disease: Increased laxity of fingers
Increased laxity of fingers 		4 0 4 0.24 0 0
CUI: C4022161
Disease: Increased endomysial connective tissue
Increased endomysial connective tissue 		10 0 5 0.23 0 0
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists 		5 0 4 0.22 0 0
CUI: C0521532
Disease: Diaphragmatic paresis
Diaphragmatic paresis 		8 0 4 0.19 0 0
CUI: C1611706
Disease: Myosclerosis
Myosclerosis 		3 0 3 0.18 0 0
CUI: C1850851
Disease: Distal joint laxity
Distal joint laxity 		3 0 3 0.18 0 0
CUI: C4225636
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT 		3 4 3 0.18 4 0.12
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles 		5 0 3 0.16 0 0
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI 		5 0 3 0.16 0 0
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis 		7 0 3 0.14 0 0
CUI: C0334013
Disease: Phrynoderma
Phrynoderma 		19 0 4 0.12 0 0
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		28 0 5 0.12 0 0
CUI: C1857482
Disease: Slender finger
Slender finger 		20 0 4 0.12 0 0
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		12 0 3 0.12 0 0
CUI: C1855239
Disease: Cone-shaped metacarpal epiphyses
Cone-shaped metacarpal epiphyses 		3 0 2 0.11 0 0
CUI: C3163798
Disease: Recurrent lower respiratory tract infection
Recurrent lower respiratory tract infection 		23 0 4 0.11 0 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		54 20 7 0.11 1 1.9E-02
CUI: C3150613
Disease: Long toe
Long toe 		24 0 4 0.11 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 3 0.11 0 0
CUI: C0155111
Disease: Bullous keratopathy
Bullous keratopathy 		4 0 2 0.11 0 0
CUI: C1848109
Disease: Long fibula
Long fibula 		4 0 2 0.11 0 0
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		26 0 4 0.10 0 0
CUI: C0158300
Disease: Adhesive Capsulitis
Adhesive Capsulitis 		5 0 2 1.0E-01 0 0