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: 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: C0005890
Disease: Body Height
Body Height 		1903 0 3 1.5E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 1.8E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 1 1.8E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 1 2.0E-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: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 1 2.0E-03 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 1 2.1E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.1E-03 0 0
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		406 0 1 2.1E-03 0 0
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		399 0 1 2.2E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 2 2.2E-03 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 1 2.3E-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: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		355 0 1 2.4E-03 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 1 2.5E-03 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 1 2.5E-03 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 1 2.6E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 2 2.6E-03 0 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 0 1 2.6E-03 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 1 2.6E-03 0 0
CUI: C1305855
Disease: Body mass index
Body mass index 		1014 0 3 2.8E-03 0 0