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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 1 1.0E-03 0 0
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		843 0 1 1.1E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 1 1.1E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 1 1.2E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 1 1.2E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 1 1.3E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 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: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		578 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 4 1.8E-03 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 0 1 1.8E-03 0 0
CUI: C0027092
Disease: Myopia
Myopia 		490 0 1 1.9E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 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: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		483 0 1 1.9E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 2 2.0E-03 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 0 1 2.1E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 2.1E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.2E-03 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 1 2.2E-03 0 0
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		414 0 1 2.2E-03 0 0