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: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 1 2.8E-03 0 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 0 1 2.8E-03 0 0
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		317 0 1 2.8E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 1 2.8E-03 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 1 2.8E-03 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 0 1 2.8E-03 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 0 1 2.8E-03 0 0
CUI: C1305855
Disease: Body mass index
Body mass index 		1014 0 3 2.8E-03 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 0 1 2.9E-03 0 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		299 0 1 2.9E-03 0 0
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		295 0 1 3.0E-03 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 1 3.1E-03 0 0
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		279 0 1 3.1E-03 0 0
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 0 1 3.1E-03 0 0
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		593 0 2 3.2E-03 0 0
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		593 0 2 3.2E-03 0 0
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		272 0 1 3.2E-03 0 0
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		272 0 1 3.2E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 1 3.2E-03 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 1 3.2E-03 0 0
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		269 0 1 3.2E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 2 3.2E-03 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 1 3.3E-03 0 0
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		265 0 1 3.3E-03 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 1 3.3E-03 0 0