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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 1 9.8E-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: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 1 1.5E-03 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 1 1.5E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.5E-03 0 0
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 3 1.5E-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: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		565 0 1 1.6E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 1.8E-03 0 0
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		483 0 1 1.8E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 1.9E-03 0 0
CUI: C0042834
Disease: Vital capacity
Vital capacity 		430 0 1 2.0E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 1 2.0E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.0E-03 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 1 2.0E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 2.1E-03 0 0
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		399 0 1 2.1E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 2.2E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 2 2.4E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 2 2.4E-03 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 2 2.5E-03 0 0
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		717 0 2 2.6E-03 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 1 2.6E-03 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 1 2.7E-03 0 0