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-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
6 0 6 0.60 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
6 0 6 0.60 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
6 0 6 0.60 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
7 0 6 0.55 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
7 0 6 0.55 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
7 0 6 0.55 0 0
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy
16 0 9 0.53 0 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
14 0 6 0.33 0 0
Hypoglycosylation of alpha-dystroglycan
10 0 5 0.33 0 0
Reduced muscle fiber alpha dystroglycan
10 0 5 0.33 0 0
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
14 0 6 0.33 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies
15 0 6 0.32 0 0
CUI: C0266456
Disease: Meningoencephalocele
Meningoencephalocele
7 0 4 0.31 0 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
33 0 10 0.30 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level
16 0 6 0.30 0 0
CUI: C1842552
Disease: Limb-girdle muscle atrophy
Limb-girdle muscle atrophy
8 0 4 0.29 0 0
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia
9 0 4 0.27 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease
19 0 6 0.26 0 0
Aplasia/Hypoplasia involving the skeletal musculature
19 0 6 0.26 0 0
Abnormal lactate dehydrogenase activity
19 0 6 0.26 0 0
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia
15 0 5 0.25 0 0
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle
5 0 3 0.25 0 0
Walker-Warburg congenital muscular dystrophy
21 0 6 0.24 0 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia
21 0 6 0.24 0 0
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst
11 0 4 0.24 0 0