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: C0005890
Disease: Body Height
Body Height 		1903 0 2 1.0E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 1 1.2E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 1 1.2E-03 0 0
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		656 0 1 1.4E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 1 1.5E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.6E-03 0 0
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		578 0 1 1.6E-03 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 1 1.9E-03 0 0
CUI: C1305855
Disease: Body mass index
Body mass index 		1014 0 2 1.9E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 2 2.0E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 1 2.1E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.1E-03 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 1 2.1E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 2.2E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 2 2.3E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.3E-03 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 1 2.3E-03 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 1 2.6E-03 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 1 2.8E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 2.8E-03 0 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 0 1 2.8E-03 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 1 2.8E-03 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 1 2.9E-03 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 1 3.0E-03 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 1 3.1E-03 0 0