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: C1857482
Disease: Slender finger
Slender finger 		20 0 7 0.18 0 0
CUI: C0334013
Disease: Phrynoderma
Phrynoderma 		19 0 6 0.15 0 0
CUI: C1850855
Disease: Increased laxity of fingers
Increased laxity of fingers 		4 0 4 0.15 0 0
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists 		5 0 4 0.15 0 0
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles 		5 0 4 0.15 0 0
CUI: C3150613
Disease: Long toe
Long toe 		24 0 6 0.14 0 0
CUI: C0521532
Disease: Diaphragmatic paresis
Diaphragmatic paresis 		8 0 4 0.13 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 9 0.12 0 0
CUI: C4022161
Disease: Increased endomysial connective tissue
Increased endomysial connective tissue 		10 0 4 0.12 0 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		56 0 9 0.12 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 8 0.12 0 0
CUI: C1850573
Disease: Slender build
Slender build 		31 0 6 0.12 0 0
CUI: C1611706
Disease: Myosclerosis
Myosclerosis 		3 0 3 0.12 0 0
CUI: C1832276
Disease: Thenar muscle weakness
Thenar muscle weakness 		3 0 3 0.12 0 0
CUI: C1832277
Disease: First dorsal interossei muscle weakness
First dorsal interossei muscle weakness 		3 0 3 0.12 0 0
CUI: C1832278
Disease: First dorsal interossei muscle atrophy
First dorsal interossei muscle atrophy 		3 0 3 0.12 0 0
CUI: C1832279
Disease: Cold-induced hand cramps
Cold-induced hand cramps 		3 0 3 0.12 0 0
CUI: C1850851
Disease: Distal joint laxity
Distal joint laxity 		3 0 3 0.12 0 0
CUI: C4021031
Disease: Abnormal motor nerve conduction velocity
Abnormal motor nerve conduction velocity 		3 0 3 0.12 0 0
CUI: C4225636
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT 		3 0 3 0.12 0 0
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		23 0 5 0.11 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 4 0.11 0 0
CUI: C4022583
Disease: Fatiguable weakness of proximal limb muscles
Fatiguable weakness of proximal limb muscles 		14 0 4 0.11 0 0
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI 		5 0 3 0.11 0 0
CUI: C0560346
Disease: Difficulty running
Difficulty running 		38 0 6 0.10 0 0