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: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		717 0 1 1.3E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.5E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.5E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 1 2.0E-03 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 1 2.0E-03 0 0
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 4 2.0E-03 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 1 2.0E-03 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 1 2.1E-03 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 1 2.2E-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: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		384 0 1 2.2E-03 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 1 2.2E-03 0 0
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		338 0 1 2.5E-03 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 3 2.8E-03 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 1 2.8E-03 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 1 2.8E-03 0 0
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		278 0 1 2.9E-03 0 0
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		272 0 1 2.9E-03 0 0
CUI: C1314691
Disease: Age at menarche
Age at menarche 		267 0 1 3.0E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 2 3.1E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 3.1E-03 0 0
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		565 0 2 3.2E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 3 3.3E-03 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 1 3.3E-03 0 0
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		234 0 1 3.3E-03 0 0