Source: ALL
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: C3809216
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 		1 13 1 1.00 12 0.55
CUI: C4021045
Disease: Increased jitter at single fibre EMG
Increased jitter at single fibre EMG 		5 0 1 0.20 0 0
CUI: C4022581
Disease: Favorable response of weakness to acetylcholine esterase inhibitors
Favorable response of weakness to acetylcholine esterase inhibitors 		5 0 1 0.20 0 0
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle 		5 0 1 0.20 0 0
CUI: C1866131
Disease: Fusion of the cerebellar hemispheres
Fusion of the cerebellar hemispheres 		6 0 1 0.17 0 0
CUI: C4024605
Disease: Generalized weakness of limb muscles
Generalized weakness of limb muscles 		6 0 1 0.17 0 0
CUI: C4476545
Disease: Dilatation of the ventricular cavity
Dilatation of the ventricular cavity 		6 0 1 0.17 0 0
CUI: C3809221
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		7 13 1 0.14 13 0.62
CUI: C4022771
Disease: Decreased thalamic volume
Decreased thalamic volume 		7 0 1 0.14 0 0
CUI: C4024905
Disease: Abnormality of the pons
Abnormality of the pons 		7 0 1 0.14 0 0
CUI: C4021024
Disease: Muscle fiber tubular inclusions
Muscle fiber tubular inclusions 		8 0 1 0.12 0 0
CUI: C4022586
Disease: Fatigable weakness of skeletal muscles
Fatigable weakness of skeletal muscles 		8 0 1 0.12 0 0
CUI: C4015098
Disease: Hypoglycosylation of alpha-dystroglycan
Hypoglycosylation of alpha-dystroglycan 		10 0 1 1.0E-01 0 0
CUI: C4022646
Disease: Reduced muscle fiber alpha dystroglycan
Reduced muscle fiber alpha dystroglycan 		10 0 1 1.0E-01 0 0
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia 		11 0 1 9.1E-02 0 0
CUI: C0549225
Disease: Myasthenic Syndrome
Myasthenic Syndrome 		12 0 1 8.3E-02 0 0
CUI: C1859692
Disease: Decreased cervical spine mobility
Decreased cervical spine mobility 		12 0 1 8.3E-02 0 0
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		13 0 1 7.7E-02 0 0
CUI: C3150620
Disease: Distal upper limb muscle weakness
Distal upper limb muscle weakness 		13 0 1 7.7E-02 0 0
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		14 0 1 7.1E-02 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		14 0 1 7.1E-02 0 0
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		14 0 1 7.1E-02 0 0
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		14 0 1 7.1E-02 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		15 0 1 6.7E-02 0 0
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		17 0 1 5.9E-02 0 0