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: C4021642
Disease: Abnormality of the Achilles tendon
Abnormality of the Achilles tendon
8 0 1 0.11 0 0
Fatigable weakness of skeletal muscles
8 0 1 0.11 0 0
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy
8 0 1 0.11 0 0
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat
19 7 2 0.11 2 0.29
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia
9 0 1 1.0E-01 0 0
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathies
9 0 1 1.0E-01 0 0
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy
10 0 1 9.1E-02 0 0
CUI: C3808250
Disease: Reduced forced vital capacity
Reduced forced vital capacity
10 0 1 9.1E-02 0 0
Hypoglycosylation of alpha-dystroglycan
10 0 1 9.1E-02 0 0
Reduced muscle fiber alpha dystroglycan
10 0 1 9.1E-02 0 0
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst
11 0 1 8.3E-02 0 0
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia
11 0 1 8.3E-02 0 0
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy
12 0 1 7.7E-02 0 0
CUI: C1859692
Disease: Decreased cervical spine mobility
Decreased cervical spine mobility
12 0 1 7.7E-02 0 0
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle
13 0 1 7.1E-02 0 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
14 0 1 6.7E-02 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation
14 0 1 6.7E-02 0 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased
30 46 2 6.7E-02 2 4.3E-02
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst
14 0 1 6.7E-02 0 0
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
14 16 1 6.7E-02 1 5.9E-02
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies
15 0 1 6.2E-02 0 0
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia
15 0 1 6.2E-02 0 0
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy
16 0 1 5.9E-02 0 0
CUI: C0427064
Disease: Pelvic girdle weakness
Pelvic girdle weakness
16 0 1 5.9E-02 0 0
Restrictive deficit on pulmonary function testing
16 0 1 5.9E-02 0 0