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: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		21 43 6 0.29 12 0.23
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		21 0 6 0.29 0 0
CUI: C1842552
Disease: Limb-girdle muscle atrophy
Limb-girdle muscle atrophy 		8 0 3 0.27 0 0
CUI: C4022586
Disease: Fatigable weakness of skeletal muscles
Fatigable weakness of skeletal muscles 		8 0 3 0.27 0 0
CUI: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus 		22 0 6 0.27 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		23 0 6 0.26 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		14 0 4 0.25 0 0
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia 		11 0 3 0.21 0 0
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		24 0 5 0.20 0 0
CUI: C1859692
Disease: Decreased cervical spine mobility
Decreased cervical spine mobility 		12 0 3 0.20 0 0
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		13 0 3 0.19 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 6 0.18 0 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		33 0 6 0.18 0 0
CUI: C1879312
Disease: Agyria
Agyria 		20 0 4 0.18 0 0
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		34 0 6 0.18 0 0
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		35 0 6 0.17 0 0
CUI: C1837229
Disease: Muscular Dystrophy, Congenital, Type 1D
Muscular Dystrophy, Congenital, Type 1D 		1 0 1 0.17 0 0
CUI: C1850871
Disease: Hypoplasia of the pyramidal tract
Hypoplasia of the pyramidal tract 		1 0 1 0.17 0 0
CUI: C1854685
Disease: Hypoplasia of the retina
Hypoplasia of the retina 		1 0 1 0.17 0 0
CUI: C1969024
Disease: CARDIOMYOPATHY, DILATED, 1X
CARDIOMYOPATHY, DILATED, 1X 		1 0 1 0.17 0 0
CUI: C1969040
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M 		1 0 1 0.17 0 0
CUI: C3150413
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 		1 0 1 0.17 0 0
CUI: C3150414
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 		1 0 1 0.17 0 0
CUI: C3150417
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 		1 0 1 0.17 0 0
CUI: C3151519
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 		1 0 1 0.17 0 0