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: C3150411
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 		1 18 1 1.00 9 0.39
CUI: C1963159
Disease: Left Ventricular Systolic Dysfunction, CTCAE 3.0
Left Ventricular Systolic Dysfunction, CTCAE 3.0 		2 0 1 0.50 0 0
CUI: C4553199
Disease: Left Ventricular Systolic Dysfunction, CTCAE 5.0
Left Ventricular Systolic Dysfunction, CTCAE 5.0 		2 0 1 0.50 0 0
CUI: C1842162
Disease: Scapuloperoneal amyotrophy
Scapuloperoneal amyotrophy 		4 0 1 0.25 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: C0266456
Disease: Meningoencephalocele
Meningoencephalocele 		7 0 1 0.14 0 0
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		7 15 1 0.14 9 0.45
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: C4022586
Disease: Fatigable weakness of skeletal muscles
Fatigable weakness of skeletal muscles 		8 0 1 0.12 0 0
CUI: C4024965
Disease: Frontal cortical atrophy
Frontal cortical atrophy 		8 0 1 0.12 0 0
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia 		9 0 1 0.11 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: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst 		11 0 1 9.1E-02 0 0
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia 		11 0 1 9.1E-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: 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: 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 16 1 7.1E-02 1 3.4E-02
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		15 0 1 6.7E-02 0 0
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia 		15 0 1 6.7E-02 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 1 6.2E-02 0 0