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: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		4 0 2 0.33 0 0
CUI: C4304725
Disease: Leber plus disease
Leber plus disease 		4 0 2 0.33 0 0
CUI: C0730309
Disease: Inherited optic neuropathy
Inherited optic neuropathy 		1 0 1 0.25 0 0
CUI: C1735375
Disease: Progressive optic neuropathy
Progressive optic neuropathy 		1 0 1 0.25 0 0
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		1 0 1 0.25 0 0
CUI: C1838954
Disease: STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA 		1 0 1 0.25 0 0
CUI: C1852267
Disease: OPTIC ATROPHY 1 AND DEAFNESS
OPTIC ATROPHY 1 AND DEAFNESS 		1 0 1 0.25 0 0
CUI: C1857308
Disease: Anterior cortical cataract
Anterior cortical cataract 		1 0 1 0.25 0 0
CUI: C1859524
Disease: Adductor longus contractures
Adductor longus contractures 		1 0 1 0.25 0 0
CUI: C4021468
Disease: Deviation of the 2nd finger
Deviation of the 2nd finger 		1 0 1 0.25 0 0
CUI: C4023650
Disease: Posterior cortical cataract
Posterior cortical cataract 		1 0 1 0.25 0 0
CUI: C4025834
Disease: Abnormal amplitude of pattern reversal visual evoked potentials
Abnormal amplitude of pattern reversal visual evoked potentials 		1 0 1 0.25 0 0
CUI: C4225163
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) 		1 0 1 0.25 0 0
CUI: C4275164
Disease: Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy plus syndrome 		1 0 1 0.25 0 0
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		12 0 3 0.23 0 0
CUI: C0026976
Disease: Myelitis, Transverse
Myelitis, Transverse 		8 0 2 0.20 0 0
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		2 0 1 0.20 0 0
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		2 0 1 0.20 0 0
CUI: C1847730
Disease: GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding)
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding) 		2 0 1 0.20 0 0
CUI: C1840088
Disease: Limited wrist movement
Limited wrist movement 		3 0 1 0.17 0 0
CUI: C3888962
Disease: POLG mutation
POLG mutation 		3 0 1 0.17 0 0
CUI: C4021569
Disease: Central retinal vessel vascular tortuosity
Central retinal vessel vascular tortuosity 		11 0 2 0.15 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 2 0.14 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		4 0 1 0.14 0 0
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		12 0 2 0.14 0 0