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: C0872218
Disease: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 		4 2 3 0.60 1 1.3E-02
CUI: C4016621
Disease: Mitochondrial neurogastrointestinal encephalomyopathy syndrome
Mitochondrial neurogastrointestinal encephalomyopathy syndrome 		2 0 2 0.50 0 0
CUI: C0345200
Disease: Congenital dysmotility of small intestine
Congenital dysmotility of small intestine 		3 0 2 0.40 0 0
CUI: C4476616
Disease: Atrophic muscularis propria
Atrophic muscularis propria 		3 0 2 0.40 0 0
CUI: C4523900
Disease: Axonal edema
Axonal edema 		3 0 2 0.40 0 0
CUI: C2931928
Disease: Mitochondrial cytopathy
Mitochondrial cytopathy 		4 0 2 0.33 0 0
CUI: C4024751
Disease: Abnormality of the extraocular muscles
Abnormality of the extraocular muscles 		4 0 2 0.33 0 0
CUI: C1827284
Disease: Refractory occipital lobe epilepsy
Refractory occipital lobe epilepsy 		1 0 1 0.25 0 0
CUI: C1843852
Disease: SPINOCEREBELLAR ATAXIA WITH EPILEPSY
SPINOCEREBELLAR ATAXIA WITH EPILEPSY 		1 2 1 0.25 1 1.3E-02
CUI: C1859863
Disease: Cerebral cortical neurodegeneration
Cerebral cortical neurodegeneration 		1 0 1 0.25 0 0
CUI: C2931111
Disease: Myopia, susceptibility to
Myopia, susceptibility to 		1 0 1 0.25 0 0
CUI: C3277376
Disease: Multiple mitochondrial DNA deletions
Multiple mitochondrial DNA deletions 		6 0 2 0.25 0 0
CUI: C4016620
Disease: CARDIOMYOPATHY AND DEAFNESS
CARDIOMYOPATHY AND DEAFNESS 		1 0 1 0.25 0 0
CUI: C4016622
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS 		1 0 1 0.25 0 0
CUI: C4020908
Disease: Hypointensity of cerebral white matter on MRI
Hypointensity of cerebral white matter on MRI 		6 0 2 0.25 0 0
CUI: C4023055
Disease: Abnormality of central motor conduction
Abnormality of central motor conduction 		1 0 1 0.25 0 0
CUI: C4025597
Disease: Subsarcolemmal accumulations of abnormally shaped mitochondria
Subsarcolemmal accumulations of abnormally shaped mitochondria 		6 0 2 0.25 0 0
CUI: C4073164
Disease: Decreased urinary copper concentration
Decreased urinary copper concentration 		1 0 1 0.25 0 0
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 0.25 7 7.1E-02
CUI: C0007118
Disease: Carcinoma, Basosquamous
Carcinoma, Basosquamous 		7 0 2 0.22 0 0
CUI: C0262918
Disease: Extraocular Muscle Paresis
Extraocular Muscle Paresis 		2 2 1 0.20 2 2.6E-02
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		2 0 1 0.20 0 0
CUI: C1843858
Disease: Atrophy/Degeneration involving the spinal cord
Atrophy/Degeneration involving the spinal cord 		2 0 1 0.20 0 0
CUI: C1848586
Disease: Visceral myopathy familial external ophthalmoplegia
Visceral myopathy familial external ophthalmoplegia 		2 0 1 0.20 0 0
CUI: C1868097
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC 		2 2 1 0.20 1 1.3E-02