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 0.86 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
6 0 6 0.86 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
6 0 6 0.86 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
7 0 6 0.75 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
7 0 6 0.75 0 0
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy
10 0 6 0.55 0 0
Hypoglycosylation of alpha-dystroglycan
10 0 6 0.55 0 0
Reduced muscle fiber alpha dystroglycan
10 0 6 0.55 0 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
14 0 7 0.50 0 0
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
14 0 7 0.50 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies
15 0 7 0.47 0 0
Fusion of the cerebellar hemispheres
6 0 4 0.44 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level
16 0 7 0.44 0 0
CUI: C0266456
Disease: Meningoencephalocele
Meningoencephalocele
7 0 4 0.40 0 0
CUI: C4022771
Disease: Decreased thalamic volume
Decreased thalamic volume
7 0 4 0.40 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease
19 0 7 0.37 0 0
Aplasia/Hypoplasia involving the skeletal musculature
19 0 7 0.37 0 0
Abnormal lactate dehydrogenase activity
19 0 7 0.37 0 0
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy
16 0 6 0.35 0 0
Walker-Warburg congenital muscular dystrophy
21 0 7 0.33 0 0
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia
9 0 4 0.33 0 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia
21 0 7 0.33 0 0
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle
5 0 3 0.33 0 0
CUI: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus
22 0 7 0.32 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst
14 0 5 0.31 0 0