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 WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
1 0 1 0.50 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
1 0 1 0.50 0 0
CUI: C4022651
Disease: Reduced muscle fiber merosin
Reduced muscle fiber merosin
1 0 1 0.50 0 0
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle
5 0 2 0.40 0 0
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
MUSCULAR DYSTROPHY, CONGENITAL, 1C
2 0 1 0.33 0 0
Fusion of the cerebellar hemispheres
6 0 2 0.33 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
6 0 2 0.33 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
6 0 2 0.33 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
6 0 2 0.33 0 0
CUI: C4024883
Disease: Hyperextensible skin of face
Hyperextensible skin of face
2 0 1 0.33 0 0
CUI: C0266456
Disease: Meningoencephalocele
Meningoencephalocele
7 0 2 0.29 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
7 0 2 0.29 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
7 0 2 0.29 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
7 0 2 0.29 0 0
CUI: C4022771
Disease: Decreased thalamic volume
Decreased thalamic volume
7 0 2 0.29 0 0
CUI: C4024905
Disease: Abnormality of the pons
Abnormality of the pons
7 0 2 0.29 0 0
CUI: C1842552
Disease: Limb-girdle muscle atrophy
Limb-girdle muscle atrophy
8 0 2 0.25 0 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
3 0 1 0.25 0 0
Fatigable weakness of skeletal muscles
8 0 2 0.25 0 0
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia
9 0 2 0.22 0 0
Postural hypotension with compensatory tachycardia
4 0 1 0.20 0 0
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy
10 0 2 0.20 0 0
Hypoglycosylation of alpha-dystroglycan
10 0 2 0.20 0 0
Reduced muscle fiber alpha dystroglycan
10 0 2 0.20 0 0
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst
11 0 2 0.18 0 0