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: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		124 0 1 2.4E-03 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 1 2.4E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 2.5E-03 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 1 2.5E-03 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 1 2.5E-03 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 1 2.5E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 2.5E-03 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 0 1 2.5E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 2.6E-03 0 0
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		99 0 1 2.6E-03 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 1 2.6E-03 0 0
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		96 0 1 2.6E-03 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 1 2.6E-03 0 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		95 0 1 2.6E-03 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 1 2.6E-03 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 1 2.6E-03 0 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		94 0 1 2.6E-03 0 0
CUI: C0566620
Disease: Nasal voice
Nasal voice 		93 0 1 2.6E-03 0 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		91 0 1 2.6E-03 0 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 0 1 2.6E-03 0 0
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		90 0 1 2.7E-03 0 0
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		90 0 1 2.7E-03 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 1 2.7E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 2.7E-03 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 1 2.7E-03 0 0