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: C4476705
Disease: Upgaze palsy
Upgaze palsy
7 0 3 0.21 0 0
Atrophy/Degeneration involving the spinal cord
2 0 2 0.20 0 0
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
2 0 2 0.20 0 0
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
Ataxia Neuropathy Spectrum
2 0 2 0.20 0 0
Abnormal morphology of the cerebellar cortex
2 0 2 0.20 0 0
CUI: C0270951
Disease: Ocular muscular dystrophy
Ocular muscular dystrophy
3 0 2 0.18 0 0
CUI: C1843859
Disease: Sensory ataxic neuropathy
Sensory ataxic neuropathy
3 0 2 0.18 0 0
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
4 0 2 0.17 0 0
Abnormal thalamic MRI signal intensity
4 0 2 0.17 0 0
CUI: C0233417
Disease: Poor concentration
Poor concentration
5 0 2 0.15 0 0
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
5 0 2 0.15 0 0
CUI: C4021583
Disease: Impaired distal tactile sensation
Impaired distal tactile sensation
5 0 2 0.15 0 0
Infantile onset spinocerebellar ataxia
6 0 2 0.14 0 0
Multiple mitochondrial DNA deletions
6 0 2 0.14 0 0
Subsarcolemmal accumulations of abnormally shaped mitochondria
6 0 2 0.14 0 0
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception
15 0 3 0.14 0 0
CUI: C0548923
Disease: Burn infection
Burn infection
7 0 2 0.13 0 0
CUI: C0749870
Disease: Upper motor neuron signs
Upper motor neuron signs
7 0 2 0.13 0 0
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis
7 0 2 0.13 0 0
CUI: C4021585
Disease: Impaired distal proprioception
Impaired distal proprioception
7 0 2 0.13 0 0
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria
16 6 3 0.13 1 0.17
CUI: C4025830
Disease: Peripheral axonal degeneration
Peripheral axonal degeneration
9 0 2 0.12 0 0
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex
10 0 2 0.11 0 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion
10 0 2 0.11 0 0
CUI: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia
21 0 3 0.11 0 0