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: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		578 0 1 1.5E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 1 1.7E-03 0 0
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		401 0 1 2.0E-03 0 0
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		338 0 1 2.3E-03 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 1 2.5E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 1 2.5E-03 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 0 1 2.5E-03 0 0
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		308 0 1 2.5E-03 0 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		299 0 1 2.6E-03 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 1 2.6E-03 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 1 2.7E-03 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 0 1 2.7E-03 0 0
CUI: C1314691
Disease: Age at menarche
Age at menarche 		267 0 1 2.8E-03 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 1 2.8E-03 0 0
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		264 0 1 2.8E-03 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 1 2.8E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 2.9E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 2 2.9E-03 0 0
CUI: C0489786
Disease: Height
Height 		249 0 1 3.0E-03 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 2 3.0E-03 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 1 3.1E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 3.1E-03 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 1 3.2E-03 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 1 3.2E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 3.2E-03 0 0