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: C0033377
Disease: Ptosis
Ptosis 		607 0 1 1.5E-03 0 0
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		593 0 1 1.5E-03 0 0
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		593 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: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		578 0 1 1.6E-03 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 1 1.6E-03 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 1 1.8E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 1.8E-03 0 0
CUI: C1305855
Disease: Body mass index
Body mass index 		1014 0 2 1.9E-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: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 1 2.0E-03 0 0
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		843 0 2 2.2E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.2E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 2 2.2E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 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: C0302142
Disease: Deformity
Deformity 		350 0 1 2.4E-03 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 1 2.5E-03 0 0
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 5 2.5E-03 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 1 2.6E-03 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 1 2.7E-03 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 1 2.8E-03 0 0