Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
3 52 2 0.67 5 8.5E-02
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
1 7 1 0.50 3 0.19
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9
1 0 1 0.50 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
1 4 1 0.50 3 0.23
CUI: C4022651
Disease: Reduced muscle fiber merosin
Reduced muscle fiber merosin
1 0 1 0.50 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9
1 0 1 0.50 0 0
CUI: C1846674
Disease: Thigh hypertrophy
Thigh hypertrophy
2 0 1 0.33 0 0
CUI: C4024883
Disease: Hyperextensible skin of face
Hyperextensible skin of face
2 2 1 0.33 1 7.7E-02
Postural hypotension with compensatory tachycardia
4 2 1 0.20 1 7.7E-02
Hypoglycosylation of alpha-dystroglycan
10 0 2 0.20 0 0
Reduced muscle fiber alpha dystroglycan
10 0 2 0.20 0 0
CUI: C1299493
Disease: Developmental failure of fusion
Developmental failure of fusion
5 0 1 0.17 0 0
CUI: C4022858
Disease: Elevated aldolase level
Elevated aldolase level
5 3 1 0.17 1 7.1E-02
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle
5 0 1 0.17 0 0
Limb-girdle muscular dystrophy type 2H
6 0 1 0.14 0 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
14 0 2 0.14 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst
14 0 2 0.14 0 0
Fusion of the cerebellar hemispheres
6 0 1 0.14 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
6 0 1 0.14 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
6 0 1 0.14 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
6 0 1 0.14 0 0
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
14 16 2 0.14 3 0.12
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies
15 0 2 0.13 0 0
CUI: C0266456
Disease: Meningoencephalocele
Meningoencephalocele
7 0 1 0.12 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
7 0 1 0.12 0 0