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: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		7 0 6 0.16 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 11 0.14 1 5.9E-02
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 16 0.14 0 0
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle 		5 0 5 0.14 0 0
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		14 3 6 0.13 1 7.7E-02
CUI: C1866284
Disease: Motor deterioration
Motor deterioration 		14 1 6 0.13 1 9.1E-02
CUI: C1866180
Disease: Horizontal pendular nystagmus
Horizontal pendular nystagmus 		7 0 5 0.13 0 0
CUI: C4024905
Disease: Abnormality of the pons
Abnormality of the pons 		7 0 5 0.13 0 0
CUI: C4022586
Disease: Fatigable weakness of skeletal muscles
Fatigable weakness of skeletal muscles 		8 0 5 0.12 0 0
CUI: C4015098
Disease: Hypoglycosylation of alpha-dystroglycan
Hypoglycosylation of alpha-dystroglycan 		10 0 5 0.12 0 0
CUI: C4022646
Disease: Reduced muscle fiber alpha dystroglycan
Reduced muscle fiber alpha dystroglycan 		10 0 5 0.12 0 0
CUI: C1856565
Disease: Progressive psychomotor deterioration
Progressive psychomotor deterioration 		11 0 5 0.12 0 0
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		50 0 9 0.12 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 8 0.11 0 0
CUI: C1859692
Disease: Decreased cervical spine mobility
Decreased cervical spine mobility 		12 0 5 0.11 0 0
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		14 0 5 0.11 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 5 0.11 0 0
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		45 0 8 0.11 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		15 0 5 0.11 0 0
CUI: C4476644
Disease: Segmental myoclonic seizures
Segmental myoclonic seizures 		5 0 4 0.11 0 0
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs 		16 2 5 0.10 1 8.3E-02
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 14 0.10 0 0
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		27 0 6 0.10 0 0
CUI: C1866131
Disease: Fusion of the cerebellar hemispheres
Fusion of the cerebellar hemispheres 		6 0 4 0.10 0 0
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy 		17 0 5 0.10 0 0