Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C2749861
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 		disease Disease or Syndrome 1 14 0.700 None 1.000 8 14 2007 2016
CUI: C2751319
Disease: Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 3 0.600 None 1.000 3 3 2015 2016
CUI: C3150172
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) 		disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2016 2016
CUI: C1848586
Disease: Visceral myopathy familial external ophthalmoplegia
Visceral myopathy familial external ophthalmoplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2009 2009
CUI: C4511138
Disease: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2012 2012
CUI: C0345200
Disease: Congenital dysmotility of small intestine
Congenital dysmotility of small intestine 		disease Congenital Abnormality 3 0.100 None 0
CUI: C1837670
Disease: Progressive intervertebral space narrowing
Progressive intervertebral space narrowing 		phenotype Finding 3 0.100 None 0
CUI: C4025647
Disease: Abnormality of the spinocerebellar tracts
Abnormality of the spinocerebellar tracts 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4476616
Disease: Atrophic muscularis propria
Atrophic muscularis propria 		phenotype Pathologic Function 3 0.100 None 0
CUI: C0872218
Disease: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 		disease Disease or Syndrome 4 2 0.310 None 1.000 1 2009 2009
CUI: C1850303
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2011 2011
CUI: C2215935
Disease: Electrocardiogram atrioventricular block complete heart block
Electrocardiogram atrioventricular block complete heart block 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 4 0.100 None 0
CUI: C4024751
Disease: Abnormality of the extraocular muscles
Abnormality of the extraocular muscles 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 13 0.300 None 1.000 2 2009 2011
CUI: C1847609
Disease: Deficit in phonologic short-term memory
Deficit in phonologic short-term memory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 5 0.100 None 0
CUI: C0427201
Disease: Floppy Muscles
Floppy Muscles 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 0.300 None 1.000 1 2009 2009
CUI: C0427202
Disease: Muscle Tone Atonic
Muscle Tone Atonic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 0.300 None 1.000 1 2009 2009
CUI: C3277376
Disease: Multiple mitochondrial DNA deletions
Multiple mitochondrial DNA deletions 		phenotype Finding 6 0.100 None 0
CUI: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		phenotype Pathologic Function 7 0.100 None 0
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 8 1 0.300 None 1.000 1 2009 2009
CUI: C0264162
Disease: Camptocormia
Camptocormia 		disease Musculoskeletal Diseases; Nervous System Diseases Acquired Abnormality 8 2 0.100 None 0 1
CUI: C0162669
Disease: Pleoconial Myopathies
Pleoconial Myopathies 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 2 2007 2009
CUI: C0949496
Disease: Luft Disease
Luft Disease 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 2 2007 2009
CUI: C1837256
Disease: Macrovesicular hepatic steatosis
Macrovesicular hepatic steatosis 		phenotype Digestive System Diseases Finding 9 0.100 None 0
CUI: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability 		phenotype Finding 9 3 0.100 None 0