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: C0152020
Disease: Gastroparesis
Gastroparesis 		95 0 20 0.13 0 0
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		78 0 18 0.13 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 11 15 0.13 2 3.2E-02
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 0 15 0.12 0 0
CUI: C4025821
Disease: Anterior hypopituitarism
Anterior hypopituitarism 		48 0 14 0.12 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 10 0.12 0 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		12 0 10 0.12 0 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria 		12 0 10 0.12 0 0
CUI: C0149793
Disease: Amaurosis Fugax
Amaurosis Fugax 		49 0 14 0.12 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 20 0.12 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 31 0.12 0 0
CUI: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left 		88 0 18 0.12 0 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		14 0 10 0.12 0 0
CUI: C0018989
Disease: Hemiparesis
Hemiparesis 		91 0 18 0.12 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 10 0.12 0 0
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		64 0 15 0.12 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 10 0.11 0 0
CUI: C0018794
Disease: Heart Block
Heart Block 		58 0 14 0.11 0 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		58 0 14 0.11 0 0
CUI: C0009024
Disease: Clonus
Clonus 		60 0 14 0.11 0 0
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		60 0 14 0.11 0 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 0 21 0.11 0 0
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		21 0 10 0.11 0 0
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		21 0 10 0.11 0 0
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		21 0 10 0.11 0 0