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: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 1 2.8E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 1 2.8E-03 0 0
CUI: C1314691
Disease: Age at menarche
Age at menarche 		267 0 1 2.8E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 3 2.9E-03 0 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		259 0 1 2.9E-03 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		244 0 1 3.0E-03 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 1 3.1E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 1 3.2E-03 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 3 3.2E-03 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 1 3.2E-03 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 1 3.2E-03 0 0
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		223 0 1 3.2E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 3 3.3E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 4 3.3E-03 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 1 3.3E-03 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 1 3.4E-03 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 0 1 3.4E-03 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 0 1 3.4E-03 0 0
CUI: C0040420
Disease: Tonometry
Tonometry 		206 0 1 3.4E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 2 3.5E-03 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 1 3.5E-03 0 0
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome 		196 0 1 3.6E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 2 3.6E-03 0 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		194 0 1 3.6E-03 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 0 1 3.6E-03 0 0