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: C3806510
Disease: Horizontal ribs
Horizontal ribs 		13 0 1 1.6E-04 0 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles 		13 0 1 1.6E-04 0 0
CUI: C4024610
Disease: Leg muscle stiffness
Leg muscle stiffness 		13 0 1 1.6E-04 0 0
CUI: C0027612
Disease: Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 		12 0 1 1.6E-04 0 0
CUI: C0162297
Disease: Respiratory arrest
Respiratory arrest 		12 0 1 1.6E-04 0 0
CUI: C0393519
Disease: Cerebellar Ataxia, Early Onset
Cerebellar Ataxia, Early Onset 		12 0 1 1.6E-04 0 0
CUI: C3806462
Disease: Apneic episodes precipitated by illness, fatigue, stress
Apneic episodes precipitated by illness, fatigue, stress 		12 0 1 1.6E-04 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 1 1.6E-04 0 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		12 0 1 1.6E-04 0 0
CUI: C4023511
Disease: Obtundation status
Obtundation status 		12 0 1 1.6E-04 0 0
CUI: C4023698
Disease: Everted upper lip vermilion
Everted upper lip vermilion 		12 0 1 1.6E-04 0 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria 		12 0 1 1.6E-04 0 0
CUI: C0523953
Disease: Cardiac troponin T measurement
Cardiac troponin T measurement 		11 0 1 1.6E-04 0 0
CUI: C1843570
Disease: Tip-toe gait
Tip-toe gait 		11 0 1 1.6E-04 0 0
CUI: C1850415
Disease: Microvesicular hepatic steatosis
Microvesicular hepatic steatosis 		11 0 1 1.6E-04 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		11 0 1 1.6E-04 0 0
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements 		11 0 1 1.6E-04 0 0
CUI: C4021066
Disease: Narrow jaw
Narrow jaw 		11 0 1 1.6E-04 0 0
CUI: C4021569
Disease: Central retinal vessel vascular tortuosity
Central retinal vessel vascular tortuosity 		11 0 1 1.6E-04 0 0
CUI: C4022168
Disease: EMG: impaired neuromuscular transmission
EMG: impaired neuromuscular transmission 		11 0 1 1.6E-04 0 0
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		11 0 1 1.6E-04 0 0
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		11 0 1 1.6E-04 0 0
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		10 0 1 1.6E-04 0 0
CUI: C0202159
Disease: Parathyroid hormone measurement
Parathyroid hormone measurement 		10 0 1 1.6E-04 0 0
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency 		10 0 1 1.6E-04 0 0