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 0 6 0.19 0 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		21 0 6 0.19 0 0
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia 		15 0 5 0.19 0 0
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia 		9 0 4 0.19 0 0
CUI: C1864449
Disease: Limited neck flexion
Limited neck flexion 		3 0 3 0.19 0 0
CUI: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus 		22 0 6 0.19 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		23 0 6 0.18 0 0
CUI: C3808250
Disease: Reduced forced vital capacity
Reduced forced vital capacity 		10 0 4 0.18 0 0
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst 		11 0 4 0.17 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 9 0.17 0 0
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle 		5 0 3 0.17 0 0
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		35 0 7 0.16 0 0
CUI: C1866131
Disease: Fusion of the cerebellar hemispheres
Fusion of the cerebellar hemispheres 		6 0 3 0.16 0 0
CUI: C4025571
Disease: Type 1 fibers relatively smaller than type 2 fibers
Type 1 fibers relatively smaller than type 2 fibers 		6 0 3 0.16 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 4 0.15 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		14 0 4 0.15 0 0
CUI: C4022771
Disease: Decreased thalamic volume
Decreased thalamic volume 		7 0 3 0.15 0 0
CUI: C4024905
Disease: Abnormality of the pons
Abnormality of the pons 		7 0 3 0.15 0 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		31 0 6 0.15 0 0
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		24 0 5 0.14 0 0
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		16 0 4 0.14 0 0
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		16 0 4 0.14 0 0
CUI: C4022586
Disease: Fatigable weakness of skeletal muscles
Fatigable weakness of skeletal muscles 		8 0 3 0.14 0 0
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy 		16 0 4 0.14 0 0
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy 		8 0 3 0.14 0 0