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.
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome)
disease Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
Glycogen storage disease due to acid maltase deficiency, infantile onset
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 7 6 0.010 None 1.000 1 2012 2012
CUI: C0451819
Disease: Simple obesity
Simple obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2017 2017
CUI: C0281788
Disease: Biventricular hypertrophy
Biventricular hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 11 3 0.010 None 1.000 1 2019 2019
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 2002 2003
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 12 0.100 None 0
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
Diabetes-deafness syndrome maternally transmitted (disorder)
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 15 5 0.010 None 1.000 1 1 2017 2017
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
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
Mitochondrial respiratory chain defects
phenotype Finding 21 4 0.100 None 0
Abnormality of mitochondrial metabolism
phenotype Finding 21 3 0.100 None 0
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy
disease Disease or Syndrome 23 7 0.010 None 1.000 1 2019 2019
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality
disease Anatomical Abnormality 23 0.100 None 0
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE
phenotype Finding 26 0.100 None 0