Source: INFERRED ×
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: C3665347
Disease: Visual Impairment
Visual Impairment 		420 0 1 1.9E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		334 0 1 2.2E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 2 2.2E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 2 2.2E-03 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		320 0 1 2.3E-03 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 1 2.5E-03 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 1 2.5E-03 0 0
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		283 0 1 2.5E-03 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 1 2.5E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		269 0 1 2.6E-03 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		259 0 1 2.6E-03 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		241 0 1 2.8E-03 0 0
CUI: C0015967
Disease: Fever
Fever 		239 0 1 2.8E-03 0 0
CUI: C0033860
Disease: Psoriasis
Psoriasis 		239 0 1 2.8E-03 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		220 0 1 2.9E-03 0 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		216 0 1 3.0E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 3.0E-03 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 1 3.0E-03 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		200 0 1 3.1E-03 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		199 0 1 3.1E-03 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 0 1 3.2E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 0 3 3.3E-03 0 0
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		184 0 1 3.3E-03 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		184 0 1 3.3E-03 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 1 3.3E-03 0 0