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: C0576690
Disease: Impaired body position sense
Impaired body position sense 		1 0 1 0.14 0 0
CUI: C0701826
Disease: Perinatal death
Perinatal death 		1 0 1 0.14 0 0
CUI: C1827284
Disease: Refractory occipital lobe epilepsy
Refractory occipital lobe epilepsy 		1 0 1 0.14 0 0
CUI: C1836439
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		1 0 1 0.14 0 0
CUI: C1843852
Disease: SPINOCEREBELLAR ATAXIA WITH EPILEPSY
SPINOCEREBELLAR ATAXIA WITH EPILEPSY 		1 0 1 0.14 0 0
CUI: C1854488
Disease: Spinocerebellar ataxia 13
Spinocerebellar ataxia 13 		1 0 1 0.14 0 0
CUI: C1859863
Disease: Cerebral cortical neurodegeneration
Cerebral cortical neurodegeneration 		1 0 1 0.14 0 0
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5 		1 0 1 0.14 0 0
CUI: C4023055
Disease: Abnormality of central motor conduction
Abnormality of central motor conduction 		1 0 1 0.14 0 0
CUI: C4024953
Disease: Dorsal column degeneration
Dorsal column degeneration 		1 0 1 0.14 0 0
CUI: C4073164
Disease: Decreased urinary copper concentration
Decreased urinary copper concentration 		1 0 1 0.14 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 0 1 0.14 0 0
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		1 0 1 0.14 0 0
CUI: C4539985
Disease: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 		1 0 1 0.14 0 0
CUI: C0270942
Disease: Myasthenic crisis
Myasthenic crisis 		2 0 1 0.12 0 0
CUI: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized Epilepsy and Paroxysmal Dyskinesia 		2 4 2 0.29 1 0.25
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		2 0 1 0.12 0 0
CUI: C1843858
Disease: Atrophy/Degeneration involving the spinal cord
Atrophy/Degeneration involving the spinal cord 		2 0 2 0.29 0 0
CUI: C1851303
Disease: Abnormality of the renal collecting system
Abnormality of the renal collecting system 		2 1 2 0.29 1 1.00
CUI: C1858351
Disease: SPINOCEREBELLAR ATAXIA 11
SPINOCEREBELLAR ATAXIA 11 		2 0 1 0.12 0 0
CUI: C1868097
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC 		2 0 2 0.29 0 0
CUI: C2315430
Disease: Orthostatic tremor
Orthostatic tremor 		2 0 1 0.12 0 0
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		2 0 1 0.12 0 0
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
Ataxia Neuropathy Spectrum 		2 0 2 0.29 0 0
CUI: C4024772
Disease: Abnormal flash visual evoked potentials
Abnormal flash visual evoked potentials 		2 0 1 0.12 0 0