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 8 0.35 0 0
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy 		10 0 6 0.33 0 0
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia 		11 0 6 0.32 0 0
CUI: C0266456
Disease: Meningoencephalocele
Meningoencephalocele 		7 0 5 0.31 0 0
CUI: C4024905
Disease: Abnormality of the pons
Abnormality of the pons 		7 0 5 0.31 0 0
CUI: C4022586
Disease: Fatigable weakness of skeletal muscles
Fatigable weakness of skeletal muscles 		8 0 5 0.29 0 0
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		13 0 6 0.29 0 0
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia 		9 0 5 0.28 0 0
CUI: C1879312
Disease: Agyria
Agyria 		20 0 7 0.26 0 0
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		16 0 6 0.25 0 0
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst 		11 0 5 0.25 0 0
CUI: C1859692
Disease: Decreased cervical spine mobility
Decreased cervical spine mobility 		12 0 5 0.24 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 9 0.24 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 13 0.23 0 0
CUI: C1842552
Disease: Limb-girdle muscle atrophy
Limb-girdle muscle atrophy 		8 0 4 0.22 0 0
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele 		33 0 8 0.21 0 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		54 0 11 0.19 0 0
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		24 0 6 0.19 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 9 0.18 0 0
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		27 0 6 0.17 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 10 0.17 0 0
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment 		22 0 5 0.16 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 0 10 0.16 0 0
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		46 0 8 0.15 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 13 0.15 0 0