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 0.20 0 0
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists 		5 0 4 0.19 0 0
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		26 0 7 0.18 0 0
CUI: C0521532
Disease: Diaphragmatic paresis
Diaphragmatic paresis 		8 0 4 0.17 0 0
CUI: C4022161
Disease: Increased endomysial connective tissue
Increased endomysial connective tissue 		10 0 4 0.15 0 0
CUI: C1611706
Disease: Myosclerosis
Myosclerosis 		3 0 3 0.15 0 0
CUI: C1850851
Disease: Distal joint laxity
Distal joint laxity 		3 0 3 0.15 0 0
CUI: C4025148
Disease: Hyperextensible thumb
Hyperextensible thumb 		3 2 3 0.15 2 0.40
CUI: C4225636
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT 		3 0 3 0.15 0 0
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles 		5 0 3 0.14 0 0
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI 		5 0 3 0.14 0 0
CUI: C3150613
Disease: Long toe
Long toe 		24 0 5 0.13 0 0
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis 		7 0 3 0.12 0 0
CUI: C4551860
Disease: Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 		7 0 3 0.12 0 0
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		17 0 4 0.12 0 0
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		17 0 4 0.12 0 0
CUI: C0334013
Disease: Phrynoderma
Phrynoderma 		19 0 4 0.11 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 3 9.7E-02 0 0
CUI: C1853482
Disease: Pear-shaped nose
Pear-shaped nose 		3 2 2 9.5E-02 1 0.17
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		28 0 4 9.1E-02 0 0
CUI: C4021029
Disease: Conspicuously happy disposition
Conspicuously happy disposition 		4 0 2 9.1E-02 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 5 9.1E-02 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 4 8.9E-02 0 0
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		19 0 3 8.3E-02 0 0
CUI: C4021168
Disease: Slender toe
Slender toe 		6 2 2 8.3E-02 2 0.40