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: C3809221
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		7 0 4 0.17 0 0
CUI: C4015184
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 		7 0 4 0.17 0 0
CUI: C4024905
Disease: Abnormality of the pons
Abnormality of the pons 		7 0 4 0.17 0 0
CUI: C1842552
Disease: Limb-girdle muscle atrophy
Limb-girdle muscle atrophy 		8 0 4 0.17 0 0
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia 		15 0 5 0.17 0 0
CUI: C4022586
Disease: Fatigable weakness of skeletal muscles
Fatigable weakness of skeletal muscles 		8 0 4 0.17 0 0
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		17 0 5 0.16 0 0
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy 		10 0 4 0.15 0 0
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		34 0 7 0.15 0 0
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		35 0 7 0.15 0 0
CUI: C1859692
Disease: Decreased cervical spine mobility
Decreased cervical spine mobility 		12 0 4 0.14 0 0
CUI: C4274995
Disease: Lissencephaly with cerebellar hypoplasia
Lissencephaly with cerebellar hypoplasia 		4 0 3 0.14 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 18 0.14 0 0
CUI: C1866131
Disease: Fusion of the cerebellar hemispheres
Fusion of the cerebellar hemispheres 		6 0 3 0.13 0 0
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly 		15 0 4 0.13 0 0
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		103 0 14 0.13 0 0
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		24 0 5 0.13 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 6 0.13 0 0
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		16 0 4 0.12 0 0
CUI: C4022771
Disease: Decreased thalamic volume
Decreased thalamic volume 		7 0 3 0.12 0 0
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		35 0 6 0.12 0 0
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
Fatty replacement of skeletal muscle 		17 0 4 0.12 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 7 0.12 0 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 0 9 0.12 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 5 0.11 0 0