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: C0266456
Disease: Meningoencephalocele
Meningoencephalocele
7 0 5 0.15 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
7 0 5 0.15 0 0
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy
16 0 6 0.15 0 0
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia
9 0 5 0.14 0 0
Hypoglycosylation of alpha-dystroglycan
10 0 5 0.14 0 0
Reduced muscle fiber alpha dystroglycan
10 0 5 0.14 0 0
Aplasia/Hypoplasia involving the skeletal musculature
19 0 6 0.14 0 0
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst
11 0 5 0.14 0 0
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome
22 0 6 0.13 0 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
14 0 5 0.12 0 0
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle
5 0 4 0.12 0 0
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
14 0 5 0.12 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies
15 0 5 0.12 0 0
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia
15 0 5 0.12 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
6 0 4 0.12 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
6 0 4 0.12 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
6 0 4 0.12 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
63 0 10 0.12 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level
16 0 5 0.12 0 0
Congenital muscular dystrophy (disorder)
54 0 9 0.12 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
7 0 4 0.12 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
7 0 4 0.12 0 0
CUI: C4024905
Disease: Abnormality of the pons
Abnormality of the pons
7 0 4 0.12 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy
46 0 8 0.12 0 0
Fatigable weakness of skeletal muscles
8 0 4 0.11 0 0