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: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		12 0 6 0.16 0 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria 		12 0 6 0.16 0 0
CUI: C0003537
Disease: Aphasia
Aphasia 		86 3 16 0.16 1 0.12
CUI: C0021843
Disease: Intestinal Obstruction
Intestinal Obstruction 		87 0 16 0.16 0 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		14 0 6 0.15 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 6 0.15 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 0 14 0.14 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 6 0.14 0 0
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		84 0 14 0.14 0 0
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism 		93 0 15 0.14 0 0
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		78 0 13 0.14 0 0
CUI: C0152020
Disease: Gastroparesis
Gastroparesis 		95 0 15 0.14 0 0
CUI: C4021569
Disease: Central retinal vessel vascular tortuosity
Central retinal vessel vascular tortuosity 		11 0 5 0.14 0 0
CUI: C0040147
Disease: Thyroiditis
Thyroiditis 		104 0 16 0.13 0 0
CUI: C0032915
Disease: Preexcitation Syndrome
Preexcitation Syndrome 		20 0 6 0.13 0 0
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia 		20 0 6 0.13 0 0
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		20 0 6 0.13 0 0
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		20 0 6 0.13 0 0
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		21 0 6 0.13 0 0
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		21 0 6 0.13 0 0
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		21 0 6 0.13 0 0
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		92 0 14 0.13 0 0
CUI: C0001403
Disease: Addison Disease
Addison Disease 		111 0 16 0.13 0 0
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME 		5 0 4 0.12 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 7 0.12 0 0