Source: CLINVAR ×
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: C1856691
Disease: Impaired proprioception
Impaired proprioception 		2 3 1 0.33 1 0.20
CUI: C1868097
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC 		2 0 1 0.33 0 0
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		2 17 1 0.33 1 5.3E-02
CUI: C3665596
Disease: Warts
Warts 		2 3 1 0.33 2 0.50
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		3 4 1 0.25 2 0.40
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		3 11 1 0.25 1 7.7E-02
CUI: C1843921
Disease: Postural instability
Postural instability 		3 5 1 0.25 2 0.33
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		4 0 1 0.20 0 0
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		4 6 1 0.20 2 0.29
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		4 8 1 0.20 1 1.0E-01
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		4 126 1 0.20 1 7.8E-03
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		4 0 1 0.20 0 0
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		10 13 2 0.20 3 0.23
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		4 5 1 0.20 2 0.33
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		4 78 1 0.20 1 1.3E-02
CUI: C0012569
Disease: Diplopia
Diplopia 		5 5 1 0.17 2 0.33
CUI: C0027066
Disease: Myoclonus
Myoclonus 		12 13 2 0.17 3 0.23
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		5 0 1 0.17 0 0
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		5 0 1 0.17 0 0
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		5 0 1 0.17 0 0
CUI: C0003635
Disease: Apraxias
Apraxias 		6 7 1 0.14 2 0.25
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		6 6 1 0.14 2 0.29
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		6 0 1 0.14 0 0
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		6 8 1 0.14 2 0.22
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		6 5 1 0.14 1 0.14