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 0.50 0 0
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists 		5 0 4 0.44 0 0
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI 		5 0 4 0.44 0 0
CUI: C1611706
Disease: Myosclerosis
Myosclerosis 		3 0 3 0.38 0 0
CUI: C1850851
Disease: Distal joint laxity
Distal joint laxity 		3 0 3 0.38 0 0
CUI: C4225636
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT 		3 0 3 0.38 0 0
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles 		5 0 3 0.30 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 5 0.29 0 0
CUI: C4022161
Disease: Increased endomysial connective tissue
Increased endomysial connective tissue 		10 0 4 0.29 0 0
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis 		7 0 3 0.25 0 0
CUI: C4551860
Disease: Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 		7 0 3 0.25 0 0
CUI: C0333759
Disease: Muscle fiber hypertrophy
Muscle fiber hypertrophy 		3 0 2 0.22 0 0
CUI: C3805969
Disease: Scapular muscle atrophy
Scapular muscle atrophy 		4 0 2 0.20 0 0
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		17 0 4 0.19 0 0
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		17 0 4 0.19 0 0
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		19 0 4 0.17 0 0
CUI: C0334013
Disease: Phrynoderma
Phrynoderma 		19 0 4 0.17 0 0
CUI: C1857482
Disease: Slender finger
Slender finger 		20 0 4 0.17 0 0
CUI: C4477013
Disease: Impaired oropharyngeal swallow response
Impaired oropharyngeal swallow response 		6 0 2 0.17 0 0
CUI: C0034933
Disease: Reflex, Abnormal
Reflex, Abnormal 		7 0 2 0.15 0 0
CUI: C1867138
Disease: Upper limb postural tremor
Upper limb postural tremor 		8 0 2 0.14 0 0
CUI: C3150613
Disease: Long toe
Long toe 		24 0 4 0.14 0 0
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		26 0 4 0.13 0 0
CUI: C0015708
Disease: Fazio-Londe Syndrome
Fazio-Londe Syndrome 		1 0 1 0.12 0 0
CUI: C0234244
Disease: Tissue Pain
Tissue Pain 		1 0 1 0.12 0 0