Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Fusion of the cerebellar hemispheres
6 0 6 0.55 0 0
CUI: C4022771
Disease: Decreased thalamic volume
Decreased thalamic volume
7 0 6 0.50 0 0
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle
13 0 7 0.41 0 0
Hypoglycosylation of alpha-dystroglycan
10 0 6 0.40 0 0
Reduced muscle fiber alpha dystroglycan
10 0 6 0.40 0 0
Fatigable weakness of skeletal muscles
8 0 5 0.36 0 0
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle
5 0 4 0.33 0 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
14 0 6 0.32 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst
14 0 6 0.32 0 0
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
14 0 6 0.32 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies
15 0 6 0.30 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
7 0 4 0.29 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
7 0 4 0.29 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
7 0 4 0.29 0 0
CUI: C4024905
Disease: Abnormality of the pons
Abnormality of the pons
7 0 4 0.29 0 0
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy
17 0 6 0.27 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease
19 0 6 0.25 0 0
Walker-Warburg congenital muscular dystrophy
21 0 6 0.23 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level
16 0 5 0.23 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly
23 0 6 0.21 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
6 0 3 0.21 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
6 0 3 0.21 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
6 0 3 0.21 0 0
CUI: C1859692
Disease: Decreased cervical spine mobility
Decreased cervical spine mobility
12 0 4 0.21 0 0
CUI: C0266456
Disease: Meningoencephalocele
Meningoencephalocele
7 0 3 0.20 0 0