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: C0270942
Disease: Myasthenic crisis
Myasthenic crisis 		2 0 1 0.20 0 0
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		2 0 1 0.20 0 0
CUI: C2315430
Disease: Orthostatic tremor
Orthostatic tremor 		2 0 1 0.20 0 0
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		2 17 1 0.20 6 0.23
CUI: C4524077
Disease: Hypertrophic olivary degeneration
Hypertrophic olivary degeneration 		2 0 1 0.20 0 0
CUI: C0151583
Disease: Abnormality of the cerebrospinal fluid
Abnormality of the cerebrospinal fluid 		3 0 1 0.17 0 0
CUI: C0155320
Disease: Blindness, Cortical
Blindness, Cortical 		3 0 1 0.17 0 0
CUI: C0345200
Disease: Congenital dysmotility of small intestine
Congenital dysmotility of small intestine 		3 0 1 0.17 0 0
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		10 13 2 0.17 1 3.7E-02
CUI: C1853767
Disease: Impaired distal vibration sensation
Impaired distal vibration sensation 		10 0 2 0.17 0 0
CUI: C3888962
Disease: POLG mutation
POLG mutation 		3 7 1 0.17 2 1.0E-01
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		10 0 2 0.17 0 0
CUI: C4025714
Disease: Abnormality of the autonomic nervous system
Abnormality of the autonomic nervous system 		3 0 1 0.17 0 0
CUI: C4476616
Disease: Atrophic muscularis propria
Atrophic muscularis propria 		3 0 1 0.17 0 0
CUI: C4551715
Disease: Pigmentary retinopathy
Pigmentary retinopathy 		11 0 2 0.15 0 0
CUI: C0007795
Disease: Diffuse Cerebral Sclerosis of Schilder
Diffuse Cerebral Sclerosis of Schilder 		4 0 1 0.14 0 0
CUI: C0872218
Disease: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 		4 0 1 0.14 0 0
CUI: C1850303
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 		4 0 1 0.14 0 0
CUI: C2931928
Disease: Mitochondrial cytopathy
Mitochondrial cytopathy 		4 0 1 0.14 0 0
CUI: C4024751
Disease: Abnormality of the extraocular muscles
Abnormality of the extraocular muscles 		4 0 1 0.14 0 0
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		4 78 1 0.14 5 5.7E-02
CUI: C0004712
Disease: Balo's Concentric Sclerosis
Balo's Concentric Sclerosis 		5 0 1 0.12 0 0
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions 		14 0 2 0.12 0 0
CUI: C0085543
Disease: Epilepsia Partialis Continua
Epilepsia Partialis Continua 		15 0 2 0.12 0 0
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		15 0 2 0.12 0 0