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: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		17 0 7 0.16 0 0
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy 		10 0 6 0.16 0 0
CUI: C1879312
Disease: Agyria
Agyria 		20 0 7 0.15 0 0
CUI: C1866131
Disease: Fusion of the cerebellar hemispheres
Fusion of the cerebellar hemispheres 		6 0 5 0.14 0 0
CUI: C0266456
Disease: Meningoencephalocele
Meningoencephalocele 		7 0 5 0.14 0 0
CUI: C4022771
Disease: Decreased thalamic volume
Decreased thalamic volume 		7 0 5 0.14 0 0
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		24 0 7 0.14 0 0
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		16 0 6 0.14 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 8 0.14 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 0 11 0.13 0 0
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia 		9 0 5 0.13 0 0
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		35 0 8 0.13 0 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		54 0 10 0.13 0 0
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		19 18 6 0.13 1 5.3E-02
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst 		11 0 5 0.12 0 0
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia 		11 0 5 0.12 0 0
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		148 10 20 0.12 1 9.1E-02
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 16 0.12 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 14 0.12 0 0
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		13 0 5 0.12 0 0
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele 		33 0 7 0.12 0 0
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle 		5 0 4 0.11 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 9 0.11 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 8 0.11 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 18 0.11 0 0