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: C0575081
Disease: Gait abnormality
Gait abnormality 		312 0 1 2.6E-03 0 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		299 0 1 2.6E-03 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 1 2.8E-03 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 1 2.8E-03 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 1 2.8E-03 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 1 2.9E-03 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		255 0 1 3.0E-03 0 0
CUI: C0489786
Disease: Height
Height 		249 517 1 3.0E-03 1 1.8E-03
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 1 3.1E-03 0 0
CUI: C0014378
Disease: Enterovirus Infections
Enterovirus Infections 		237 0 1 3.2E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 1 3.3E-03 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 1 3.3E-03 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 1 3.3E-03 0 0
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		223 0 1 3.3E-03 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 1 3.3E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 3.3E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 3.4E-03 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 1 3.4E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 3.4E-03 0 0
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		213 0 1 3.4E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 1 3.4E-03 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 0 1 3.4E-03 0 0
CUI: C0040420
Disease: Tonometry
Tonometry 		206 0 1 3.5E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 2 3.5E-03 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 1 3.6E-03 0 0