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: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		35 1 1 2.9E-02 1 0.50
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
Ataxia Neuropathy Spectrum 		2 2 1 0.50 1 0.33
CUI: C3888962
Disease: POLG mutation
POLG mutation 		3 7 1 0.33 2 0.29
CUI: C0234378
Disease: Static Tremor
Static Tremor 		62 3 1 1.6E-02 1 0.25
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception 		15 3 1 6.7E-02 1 0.25
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		61 4 1 1.6E-02 1 0.20
CUI: C0033377
Disease: Ptosis
Ptosis 		607 12 1 1.6E-03 2 0.17
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		13 5 1 7.7E-02 1 0.17
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		16 6 1 6.2E-02 1 0.14
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		4 15 1 0.25 2 0.13
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		33 8 1 3.0E-02 1 0.11
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		533 12 1 1.9E-03 1 7.7E-02
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom 		0 12 0 0 1 7.7E-02
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		10 13 1 1.0E-01 1 7.1E-02
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 1 0.20 1 7.1E-02
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		2 17 1 0.50 1 5.6E-02
CUI: C0085605
Disease: Liver Failure
Liver Failure 		293 20 1 3.4E-03 1 4.8E-02
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		83 20 1 1.2E-02 1 4.8E-02
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		282 21 1 3.5E-03 1 4.5E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 1 4.4E-03 1 3.6E-02
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 1.00 1 3.6E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 1 1.7E-03 2 3.5E-02
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		156 32 1 6.4E-03 1 3.0E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 1 1.2E-03 2 2.9E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 34 1 3.8E-03 1 2.9E-02