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: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy
10 0 9 0.53 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
6 0 6 0.38 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
6 0 6 0.38 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
6 0 6 0.38 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
7 0 6 0.35 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
7 0 6 0.35 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
7 0 6 0.35 0 0
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
11 0 7 0.35 0 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
33 0 12 0.32 0 0
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
44 0 12 0.25 0 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
14 0 6 0.25 0 0
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
14 0 6 0.25 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies
15 0 6 0.24 0 0
Hypoglycosylation of alpha-dystroglycan
10 0 5 0.24 0 0
Reduced muscle fiber alpha dystroglycan
10 0 5 0.24 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
63 0 15 0.23 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level
16 0 6 0.23 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness
28 0 8 0.22 0 0
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline
47 0 11 0.21 0 0
CUI: C0266456
Disease: Meningoencephalocele
Meningoencephalocele
7 0 4 0.21 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease
19 0 6 0.21 0 0
Congenital muscular dystrophy (disorder)
54 0 12 0.21 0 0
Aplasia/Hypoplasia involving the skeletal musculature
19 0 6 0.21 0 0
Abnormal lactate dehydrogenase activity
19 0 6 0.21 0 0
CUI: C1842552
Disease: Limb-girdle muscle atrophy
Limb-girdle muscle atrophy
8 0 4 0.20 0 0