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: C1290646
Disease: Acute apical abscess
Acute apical abscess 		0 3 0 0 1 2.6E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.5E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 1 1.7E-03 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 1 2.0E-03 0 0
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		399 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: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.1E-03 0 0
CUI: C0302142
Disease: Deformity
Deformity 		350 0 1 2.3E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 2.4E-03 0 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 0 1 2.4E-03 0 0
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		717 0 2 2.5E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 2 2.5E-03 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 1 2.5E-03 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 1 2.6E-03 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 1 2.7E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 2 2.7E-03 0 0
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		269 0 1 2.8E-03 0 0
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		264 0 1 2.8E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 2.9E-03 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 1 3.0E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 3.1E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 3.1E-03 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 1 3.1E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 1 3.1E-03 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 1 3.2E-03 0 0