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: C0005890
Disease: Body Height
Body Height 		1903 0 1 5.2E-04 0 0
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		843 0 1 1.1E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 1 1.3E-03 0 0
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		653 0 1 1.5E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 1 1.5E-03 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 1 1.5E-03 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 1 1.6E-03 0 0
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		593 0 1 1.6E-03 0 0
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		593 0 1 1.6E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 3 1.6E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 1 1.6E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 2 1.7E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 1 1.7E-03 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 1 1.8E-03 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 4 1.8E-03 0 0
CUI: C1305855
Disease: Body mass index
Body mass index 		1014 0 2 1.9E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 1 1.9E-03 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 2 1.9E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 1 1.9E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 2 2.0E-03 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 1 2.0E-03 0 0
CUI: C0042834
Disease: Vital capacity
Vital capacity 		430 0 1 2.1E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 2.2E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.2E-03 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 1 2.2E-03 0 0