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: C0345200
Disease: Congenital dysmotility of small intestine
Congenital dysmotility of small intestine 		3 0 2 0.67 0 0
CUI: C4476616
Disease: Atrophic muscularis propria
Atrophic muscularis propria 		3 0 2 0.67 0 0
CUI: C0872218
Disease: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 		4 0 2 0.50 0 0
CUI: C2749861
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 		1 0 1 0.50 0 0
CUI: C2751319
Disease: Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 		1 0 1 0.50 0 0
CUI: C3150172
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) 		1 0 1 0.50 0 0
CUI: C4024751
Disease: Abnormality of the extraocular muscles
Abnormality of the extraocular muscles 		4 0 2 0.50 0 0
CUI: C0262918
Disease: Extraocular Muscle Paresis
Extraocular Muscle Paresis 		2 0 1 0.33 0 0
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 0.33 0 0
CUI: C3277376
Disease: Multiple mitochondrial DNA deletions
Multiple mitochondrial DNA deletions 		6 0 2 0.33 0 0
CUI: C4016621
Disease: Mitochondrial neurogastrointestinal encephalomyopathy syndrome
Mitochondrial neurogastrointestinal encephalomyopathy syndrome 		2 0 1 0.33 0 0
CUI: C4511138
Disease: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 		2 0 1 0.33 0 0
CUI: C1837670
Disease: Progressive intervertebral space narrowing
Progressive intervertebral space narrowing 		3 0 1 0.25 0 0
CUI: C4025647
Disease: Abnormality of the spinocerebellar tracts
Abnormality of the spinocerebellar tracts 		3 0 1 0.25 0 0
CUI: C4523900
Disease: Axonal edema
Axonal edema 		3 0 1 0.25 0 0
CUI: C1837256
Disease: Macrovesicular hepatic steatosis
Macrovesicular hepatic steatosis 		9 0 2 0.22 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 0.20 0 0
CUI: C2215935
Disease: Electrocardiogram atrioventricular block complete heart block
Electrocardiogram atrioventricular block complete heart block 		4 0 1 0.20 0 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		10 0 2 0.20 0 0
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		4 0 1 0.20 0 0
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		5 0 1 0.17 0 0
CUI: C1847609
Disease: Deficit in phonologic short-term memory
Deficit in phonologic short-term memory 		5 0 1 0.17 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		12 0 2 0.17 0 0
CUI: C0427201
Disease: Floppy Muscles
Floppy Muscles 		6 0 1 0.14 0 0
CUI: C0427202
Disease: Muscle Tone Atonic
Muscle Tone Atonic 		6 0 1 0.14 0 0