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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.5E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 2.0E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 2.1E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 2.5E-03 0 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 0 1 2.5E-03 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 1 2.7E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 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: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		593 0 2 2.9E-03 0 0
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		593 0 2 2.9E-03 0 0
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		249 0 1 3.0E-03 0 0
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		578 0 2 3.0E-03 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 1 3.1E-03 0 0
CUI: C0004610
Disease: Bacteremia
Bacteremia 		233 0 1 3.1E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 3.1E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 1 3.2E-03 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 1 3.2E-03 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 1 3.3E-03 0 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 1 3.3E-03 0 0
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		213 0 1 3.3E-03 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 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: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 1 3.4E-03 0 0
CUI: C0040420
Disease: Tonometry
Tonometry 		206 0 1 3.4E-03 0 0
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		202 0 1 3.5E-03 0 0