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: C4304725
Disease: Leber plus disease
Leber plus disease 		4 0 3 0.60 0 0
CUI: C0029125
Disease: Optic Atrophies, Hereditary
Optic Atrophies, Hereditary 		4 0 2 0.33 0 0
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		12 0 4 0.33 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 4 0.33 0 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		12 0 4 0.33 0 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria 		12 0 4 0.33 0 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		14 0 4 0.29 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 4 0.27 0 0
CUI: C1838954
Disease: STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA 		1 0 1 0.25 0 0
CUI: C4021569
Disease: Central retinal vessel vascular tortuosity
Central retinal vessel vascular tortuosity 		11 0 3 0.25 0 0
CUI: C4722144
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 (finding)
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 (finding) 		1 0 1 0.25 0 0
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		1 3 1 0.25 1 0.14
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		12 0 3 0.23 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 4 0.22 0 0
CUI: C0009225
Disease: Coenuriasis
Coenuriasis 		2 0 1 0.20 0 0
CUI: C0026976
Disease: Myelitis, Transverse
Myelitis, Transverse 		8 0 2 0.20 0 0
CUI: C0598106
Disease: Encephalomyelopathy
Encephalomyelopathy 		2 0 1 0.20 0 0
CUI: C1838990
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL 		2 0 1 0.20 0 0
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		21 0 4 0.19 0 0
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		21 0 4 0.19 0 0
CUI: C0032915
Disease: Preexcitation Syndrome
Preexcitation Syndrome 		20 0 3 0.14 0 0
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia 		20 0 3 0.14 0 0
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		20 0 3 0.14 0 0
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		20 0 3 0.14 0 0
CUI: C3502298
Disease: Lactic Acidosis, Fatal Infantile
Lactic Acidosis, Fatal Infantile 		4 0 1 0.14 0 0