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: C4022036
Disease: Abnormality of vitamin metabolism
Abnormality of vitamin metabolism 		phenotype Finding 1 0.100 None 0
CUI: C0542037
Disease: Hypotriglyceridemia
Hypotriglyceridemia 		disease Disease or Syndrome 9 2 0.100 None 0
CUI: C0853085
Disease: Decreased LDL cholesterol concentration
Decreased LDL cholesterol concentration 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding 9 0.100 None 0
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 10 6 0.800 None 1.000 19 6 2003 2019
CUI: C4025021
Disease: Increased hepatocellular lipid droplets
Increased hepatocellular lipid droplets 		phenotype Finding 14 0.100 None 0
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 15 3 0.100 None 0
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 11 0.020 None 1.000 2 2015 2019
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 8 0.100 None 0
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Finding 37 0.100 None 0
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 62 9 0.010 None 1.000 1 2008 2008
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 65 19 0.130 None 1.000 3 2011 2016
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 81 4 0.020 None 1.000 2 2004 2015
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 107 9 0.100 None 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype Finding 108 0.100 None 0
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 113 22 0.130 None 1.000 3 1 2008 2015
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		phenotype Musculoskeletal Diseases; Nervous System Diseases Pathologic Function 115 16 0.100 None 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 121 8 0.100 None 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.020 None 1.000 2 2004 2015
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C0011269
Disease: Dementia, Vascular
Dementia, Vascular 		disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 212 32 0.010 None < 0.001 1 2016 2016
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.040 None 1.000 4 2003 2015
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.020 None 1.000 2 1 2007 2009