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.
Megaloblastic anemia due to inborn errors of metabolism
disease Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Male Urogenital Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 51 0.760 1.000 11 19 2003 2014
Extravasation of Diagnostic and Therapeutic Materials
disease Pathological Conditions, Signs and Symptoms; Wounds and Injuries Injury or Poisoning 6 0.300 1 2008 2008
CUI: C0600467
Disease: Neurogenic Inflammation
Neurogenic Inflammation
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Injury or Poisoning 14 0.300 2 2007 2008
CUI: C0015378
Disease: Extravasation of Contrast Media
Extravasation of Contrast Media
phenotype Pathological Conditions, Signs and Symptoms; Wounds and Injuries Pathologic Function 6 0.300 1 2008 2008
CUI: C0013604
Disease: Edema
Edema
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 92 0.300 1 2008 2008
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype Pathologic Function 206 0.300 strong 1 2004 2004
CUI: C1565662
Disease: Acute Kidney Insufficiency
Acute Kidney Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 88 0.300 1 2011 2011
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 strong 1 2004 2004
CUI: C0151603
Disease: Anasarca
Anasarca
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 27 0.300 1 2008 2008
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 91 0.300 1 2011 2011
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 309 8 0.300 1 2011 2011
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic
disease Hemic and Lymphatic Diseases Disease or Syndrome 23 0.110 1 2003 2003
CUI: C0750292
Disease: Malabsorption of Vitamin B12
Malabsorption of Vitamin B12
phenotype Finding 3 0.100 0
CUI: C0497327
Disease: Dementia
Dementia
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 435 107 0.100 0
CUI: C1837352
Disease: Childhood onset
Childhood onset
phenotype Finding 49 0.100 0
Vitamin B12 deficiency caused by intestinal malabsorption
phenotype Finding 3 0.100 0
MEGALOBLASTIC ANEMIA 1, NORWEGIAN TYPE
phenotype Finding 1 1 0.100 1 1 2003 2003
CUI: C0033687
Disease: Proteinuria
Proteinuria
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms Finding 183 5 0.100 0
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 47 2 0.100 0
CUI: C0020580
Disease: Hypesthesia
Hypesthesia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 10 0.100 0
CUI: C0009676
Disease: Confusion
Confusion
phenotype Behavior and Behavior Mechanisms; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 43 0.100 0
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 148 69 0.050 1.000 5 1990 2015
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 17 30 0.030 1.000 3 1990 2015
CUI: C0037928
Disease: Spinal Cord Diseases
Spinal Cord Diseases
group Nervous System Diseases Disease or Syndrome 39 0.020 1.000 2 2008 2015
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome
group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 40 0.020 1.000 2 2003 2012