Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Congenital hereditary muscular dystrophy
1 0 1 1.00 0 0
CUI: C1611706
Disease: Myosclerosis
Myosclerosis
3 0 1 0.33 0 0
CUI: C1850851
Disease: Distal joint laxity
Distal joint laxity
3 0 1 0.33 0 0
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
3 0 1 0.33 0 0
CUI: C1850855
Disease: Increased laxity of fingers
Increased laxity of fingers
4 0 1 0.25 0 0
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists
5 0 1 0.20 0 0
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles
5 0 1 0.20 0 0
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI
5 0 1 0.20 0 0
CUI: C1836149
Disease: Axial dystonia
Axial dystonia
6 0 1 0.17 0 0
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis
7 0 1 0.14 0 0
Ullrich congenital muscular dystrophy
7 0 1 0.14 0 0
CUI: C0521532
Disease: Diaphragmatic paresis
Diaphragmatic paresis
8 0 1 0.12 0 0
CUI: C1867138
Disease: Upper limb postural tremor
Upper limb postural tremor
8 0 1 0.12 0 0
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
10 0 1 1.0E-01 0 0
CUI: C0588125
Disease: Nodular tenosynovitis
Nodular tenosynovitis
10 0 1 1.0E-01 0 0
Increased endomysial connective tissue
10 0 1 1.0E-01 0 0
Fibrous histiocytoma of tendon sheath
13 0 1 7.7E-02 0 0
CUI: C2242577
Disease: Oromandibular dystonia
Oromandibular dystonia
13 0 1 7.7E-02 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation
14 0 1 7.1E-02 0 0
Ullrich congenital muscular dystrophy 1
17 34 1 5.9E-02 2 5.1E-02
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
17 108 1 5.9E-02 3 2.7E-02
CUI: C1963946
Disease: Laryngeal dystonia
Laryngeal dystonia
17 0 1 5.9E-02 0 0
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal
18 0 1 5.6E-02 0 0
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis
19 0 1 5.3E-02 0 0
CUI: C0334013
Disease: Phrynoderma
Phrynoderma
19 0 1 5.3E-02 0 0