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: C0393547
Disease: Bulbospinal Neuronopathy
Bulbospinal Neuronopathy 		7 0 5 0.17 0 0
CUI: C0917981
Disease: Progressive Muscular Atrophy
Progressive Muscular Atrophy 		16 0 5 0.13 0 0
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		36 7 6 0.10 1 7.5E-03
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		4 0 3 0.10 0 0
CUI: C3277376
Disease: Multiple mitochondrial DNA deletions
Multiple mitochondrial DNA deletions 		6 0 3 9.7E-02 0 0
CUI: C4025597
Disease: Subsarcolemmal accumulations of abnormally shaped mitochondria
Subsarcolemmal accumulations of abnormally shaped mitochondria 		6 0 3 9.7E-02 0 0
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		18 0 4 9.5E-02 0 0
CUI: C0270816
Disease: epilepsy and migraine
epilepsy and migraine 		7 0 3 9.4E-02 0 0
CUI: C4021585
Disease: Impaired distal proprioception
Impaired distal proprioception 		7 0 3 9.4E-02 0 0
CUI: C1837256
Disease: Macrovesicular hepatic steatosis
Macrovesicular hepatic steatosis 		9 0 3 8.8E-02 0 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		10 0 3 8.6E-02 0 0
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		50 13 6 8.3E-02 1 7.1E-03
CUI: C0393911
Disease: Pure Autonomic Failure
Pure Autonomic Failure 		12 0 3 8.1E-02 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		12 0 3 8.1E-02 0 0
CUI: C1843505
Disease: Degeneration of anterior horn cells
Degeneration of anterior horn cells 		15 0 3 7.5E-02 0 0
CUI: C1865384
Disease: Amyotrophy, monomelic
Amyotrophy, monomelic 		15 0 3 7.5E-02 0 0
CUI: C2220255
Disease: Motor disturbances
Motor disturbances 		16 0 3 7.3E-02 0 0
CUI: C0038828
Disease: Superior Mesenteric Artery Syndrome
Superior Mesenteric Artery Syndrome 		2 0 2 7.1E-02 0 0
CUI: C0311262
Disease: Chronic mesenteric ischemia
Chronic mesenteric ischemia 		2 0 2 7.1E-02 0 0
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		2 0 2 7.1E-02 0 0
CUI: C1838230
Disease: SPINAL MUSCULAR ATROPHY, TYPE IV
SPINAL MUSCULAR ATROPHY, TYPE IV 		2 0 2 7.1E-02 0 0
CUI: C1843858
Disease: Atrophy/Degeneration involving the spinal cord
Atrophy/Degeneration involving the spinal cord 		2 0 2 7.1E-02 0 0
CUI: C1868097
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC 		2 2 2 7.1E-02 1 7.8E-03
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		2 17 2 7.1E-02 16 0.12
CUI: C3151343
Disease: SPINOCEREBELLAR ATAXIA 32
SPINOCEREBELLAR ATAXIA 32 		2 0 2 7.1E-02 0 0