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: C1838954
Disease: STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA 		disease Finding 1 1 0.100 None 0 1
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 5 0.400 None 1.000 2 2 1994 1996
CUI: C4304725
Disease: Leber plus disease
Leber plus disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 2 0.300 None 1.000 2 1994 1996
CUI: C0029125
Disease: Optic Atrophies, Hereditary
Optic Atrophies, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 1999 1999
CUI: C0026976
Disease: Myelitis, Transverse
Myelitis, Transverse 		disease Neoplasms; Infections; Immune System Diseases; Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2020 2020
CUI: C4021569
Disease: Central retinal vessel vascular tortuosity
Central retinal vessel vascular tortuosity 		phenotype Finding 11 0.100 None 0
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 1 0.300 None 1.000 2 2003 2013
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 12 0.100 None 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		phenotype Finding 12 0.100 None 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		phenotype Pathologic Function 12 0.100 None 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria 		phenotype Nutritional and Metabolic Diseases Finding 12 0.100 None 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		phenotype Finding 14 0.100 None 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		phenotype Finding 15 0.100 None 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		phenotype Finding 18 0.100 None 0
CUI: C0032915
Disease: Preexcitation Syndrome
Preexcitation Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 20 2 0.100 None 0
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia 		disease Cardiovascular Diseases Disease or Syndrome 20 0.100 None 0
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 2 0.100 None 0
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		phenotype Finding 20 1 0.100 None 0
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		phenotype Finding 21 0.100 None 0
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		phenotype Finding 21 0.100 None 0
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		phenotype Finding 21 4 0.100 None 0
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		phenotype Finding 21 3 0.100 None 0
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		disease Anatomical Abnormality 23 0.100 None 0
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		disease Congenital Abnormality 25 7 0.020 None 1.000 2 1994 1998
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE 		phenotype Finding 26 0.100 None 0