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: C1836057
Disease: Muscle fiber splitting
Muscle fiber splitting
13 0 4 0.22 0 0
Atrophy of quadriceps femoris muscle
3 0 2 0.20 0 0
CUI: C4024921
Disease: Lower limb amyotrophy
Lower limb amyotrophy
19 0 4 0.17 0 0
CUI: C1837323
Disease: Decreased Achilles reflex
Decreased Achilles reflex
7 0 2 0.14 0 0
CUI: C0393555
Disease: Pure hereditary spastic paraplegia
Pure hereditary spastic paraplegia
9 0 2 0.12 0 0
CUI: C4021727
Disease: EMG: neuropathic changes
EMG: neuropathic changes
28 0 4 0.12 0 0
Increased endomysial connective tissue
10 0 2 0.12 0 0
CUI: C0333062
Disease: Hernia sac
Hernia sac
1 0 1 0.11 0 0
CUI: C0555197
Disease: Florid cemento-osseous dysplasia
Florid cemento-osseous dysplasia
1 0 1 0.11 0 0
CUI: C0750403
Disease: Proximal weakness
Proximal weakness
11 0 2 0.11 0 0
Myopathy, Hyaline Body, Autosomal Recessive
1 0 1 0.11 0 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
1 0 1 0.11 0 0
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
1 0 1 0.11 0 0
CUI: C2827432
Disease: Bile Acid Synthesis Defect
Bile Acid Synthesis Defect
1 0 1 0.11 0 0
CUI: C2936171
Disease: Familial Ebstein's Anomaly
Familial Ebstein's Anomaly
1 0 1 0.11 0 0
CUI: C3150690
Disease: LEFT VENTRICULAR NONCOMPACTION 5
LEFT VENTRICULAR NONCOMPACTION 5
1 0 1 0.11 0 0
CUI: C3495361
Disease: Gigantiform Cementoma, Familial
Gigantiform Cementoma, Familial
1 0 1 0.11 0 0
CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC
1 0 1 0.11 0 0
CUI: C4023127
Disease: Toe extensor amyotrophy
Toe extensor amyotrophy
1 0 1 0.11 0 0
CUI: C4023292
Disease: Imperforate tricuspid valve
Imperforate tricuspid valve
1 0 1 0.11 0 0
Congenital bile acid synthesis defect type 3
1 0 1 0.11 0 0
CUI: C4310658
Disease: MYOCLONUS, INTRACTABLE, NEONATAL
MYOCLONUS, INTRACTABLE, NEONATAL
1 0 1 0.11 0 0
CUI: C4310754
Disease: MYOPATHY, DISTAL, 5
MYOPATHY, DISTAL, 5
1 0 1 0.11 0 0
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC
1 0 1 0.11 0 0
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
1 0 1 0.11 0 0