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: 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: 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: C4023055
Disease: Abnormality of central motor conduction
Abnormality of central motor conduction 		1 0 1 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: 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
CUI: C2749864
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		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 7 8.0E-02
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
Ataxia Neuropathy Spectrum 		2 0 1 0.20 0 0
CUI: C4016621
Disease: Mitochondrial neurogastrointestinal encephalomyopathy syndrome
Mitochondrial neurogastrointestinal encephalomyopathy syndrome 		2 0 2 0.50 0 0
CUI: C4524077
Disease: Hypertrophic olivary degeneration
Hypertrophic olivary degeneration 		2 0 1 0.20 0 0
CUI: C4531132
Disease: Abnormal morphology of the cerebellar cortex
Abnormal morphology of the cerebellar cortex 		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: C0270951
Disease: Ocular muscular dystrophy
Ocular muscular dystrophy 		3 0 1 0.17 0 0
CUI: C0345200
Disease: Congenital dysmotility of small intestine
Congenital dysmotility of small intestine 		3 0 2 0.40 0 0
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		3 0 1 0.17 0 0