Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Atrophy/Degeneration involving the spinal cord
2 0 2 0.29 0 0
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
2 0 2 0.29 0 0
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
Ataxia Neuropathy Spectrum
2 0 2 0.29 0 0
Abnormal morphology of the cerebellar cortex
2 0 2 0.29 0 0
CUI: C0270951
Disease: Ocular muscular dystrophy
Ocular muscular dystrophy
3 0 2 0.25 0 0
CUI: C1843859
Disease: Sensory ataxic neuropathy
Sensory ataxic neuropathy
3 0 2 0.25 0 0
Diffuse Cerebral Sclerosis of Schilder
4 0 2 0.22 0 0
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive
15 6 4 0.22 1 0.17
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
4 0 2 0.22 0 0
Abnormal thalamic MRI signal intensity
4 0 2 0.22 0 0
CUI: C0233417
Disease: Poor concentration
Poor concentration
5 0 2 0.20 0 0
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
5 0 2 0.20 0 0
Infantile onset spinocerebellar ataxia
6 0 2 0.18 0 0
Multiple mitochondrial DNA deletions
6 0 2 0.18 0 0
Subsarcolemmal accumulations of abnormally shaped mitochondria
6 0 2 0.18 0 0
CUI: C0548923
Disease: Burn infection
Burn infection
7 0 2 0.17 0 0
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis
7 0 2 0.17 0 0
CUI: C4476705
Disease: Upgaze palsy
Upgaze palsy
7 0 2 0.17 0 0
Neuropathy in association with hereditary ataxia
1 0 1 0.14 0 0
CUI: C0576690
Disease: Impaired body position sense
Impaired body position sense
1 0 1 0.14 0 0
epithelioid cell intraocular melanoma
1 0 1 0.14 0 0
CUI: C1827284
Disease: Refractory occipital lobe epilepsy
Refractory occipital lobe epilepsy
1 0 1 0.14 0 0
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
1 0 1 0.14 0 0
Increased subcutaneous truncal adipose tissue
1 0 1 0.14 0 0
SPINOCEREBELLAR ATAXIA WITH EPILEPSY
1 0 1 0.14 0 0