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: C1843858
Disease: Atrophy/Degeneration involving the spinal cord
Atrophy/Degeneration involving the spinal cord 		2 0 2 0.50 0 0
CUI: C1868097
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC 		2 2 2 0.50 1 6.2E-02
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
Ataxia Neuropathy Spectrum 		2 2 2 0.50 1 6.2E-02
CUI: C4531132
Disease: Abnormal morphology of the cerebellar cortex
Abnormal morphology of the cerebellar cortex 		2 0 2 0.50 0 0
CUI: C0270951
Disease: Ocular muscular dystrophy
Ocular muscular dystrophy 		3 0 2 0.40 0 0
CUI: C1843859
Disease: Sensory ataxic neuropathy
Sensory ataxic neuropathy 		3 0 2 0.40 0 0
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		4 0 2 0.33 0 0
CUI: C0233417
Disease: Poor concentration
Poor concentration 		5 0 2 0.29 0 0
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		5 13 2 0.29 6 0.27
CUI: C0576690
Disease: Impaired body position sense
Impaired body position sense 		1 0 1 0.25 0 0
CUI: C1827284
Disease: Refractory occipital lobe epilepsy
Refractory occipital lobe epilepsy 		1 0 1 0.25 0 0
CUI: C1836439
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		1 0 1 0.25 0 0
CUI: C1843852
Disease: SPINOCEREBELLAR ATAXIA WITH EPILEPSY
SPINOCEREBELLAR ATAXIA WITH EPILEPSY 		1 2 1 0.25 2 0.13
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
Infantile onset spinocerebellar ataxia 		6 0 2 0.25 0 0
CUI: C1859863
Disease: Cerebral cortical neurodegeneration
Cerebral cortical neurodegeneration 		1 0 1 0.25 0 0
CUI: C3277376
Disease: Multiple mitochondrial DNA deletions
Multiple mitochondrial DNA deletions 		6 0 2 0.25 0 0
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5 		1 0 1 0.25 0 0
CUI: C4023055
Disease: Abnormality of central motor conduction
Abnormality of central motor conduction 		1 0 1 0.25 0 0
CUI: C4025597
Disease: Subsarcolemmal accumulations of abnormally shaped mitochondria
Subsarcolemmal accumulations of abnormally shaped mitochondria 		6 0 2 0.25 0 0
CUI: C4073164
Disease: Decreased urinary copper concentration
Decreased urinary copper concentration 		1 0 1 0.25 0 0
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		1 27 1 0.25 8 0.24
CUI: C0548923
Disease: Burn infection
Burn infection 		7 0 2 0.22 0 0
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis 		7 0 2 0.22 0 0
CUI: C4021585
Disease: Impaired distal proprioception
Impaired distal proprioception 		7 0 2 0.22 0 0
CUI: C4476705
Disease: Upgaze palsy
Upgaze palsy 		7 0 2 0.22 0 0