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: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 2 3.2E-03 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 1 3.2E-03 0 0
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		265 0 1 3.2E-03 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 1 3.2E-03 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 1 3.2E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 3 3.3E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 3.3E-03 0 0
CUI: C0489786
Disease: Height
Height 		249 0 1 3.4E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 3 3.4E-03 0 0
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		234 0 1 3.5E-03 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 4 3.6E-03 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 0 2 3.6E-03 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 1 3.6E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 1 3.6E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 3 3.6E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 3 3.6E-03 0 0
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		226 0 1 3.6E-03 0 0
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		223 0 1 3.7E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 3.7E-03 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 1 3.8E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 3.8E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 2 3.8E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 2 3.8E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 1 3.9E-03 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 1 3.9E-03 0 0