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: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 68 0.770 None 1.000 13 25 2003 2018
Megaloblastic anemia due to inborn errors of metabolism
disease Hemic and Lymphatic Diseases Disease or Syndrome 3 0.300 None 1.000 2 2011 2015
CUI: C0600467
Disease: Neurogenic Inflammation
Neurogenic Inflammation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Injury or Poisoning 18 0.300 None 1.000 2 2006 2007
CUI: C0151603
Disease: Anasarca
Anasarca
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.300 None 1.000 1 2007 2007
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 None 1.000 1 2007 2007
CUI: C0013604
Disease: Edema
Edema
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 126 1 0.300 None 1.000 1 2007 2007
CUI: C1565662
Disease: Acute Kidney Insufficiency
Acute Kidney Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 104 0.300 None 1.000 1 2011 2011
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.300 None 1.000 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 826 32 0.300 None 1.000 1 2011 2011
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic
disease Hemic and Lymphatic Diseases Disease or Syndrome 26 2 0.120 None 1.000 2 1 2003 2005
CUI: C1837352
Disease: Childhood onset
Childhood onset
phenotype Finding 56 0.100 None 0
CUI: C0750292
Disease: Malabsorption of Vitamin B12
Malabsorption of Vitamin B12
phenotype Finding 3 0.100 None 0
CUI: C0009676
Disease: Confusion
Confusion
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 75 5 0.100 None 0
CUI: C0020580
Disease: Hypesthesia
Hypesthesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 29 11 0.100 None 0 1
CUI: C0033687
Disease: Proteinuria
Proteinuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 239 20 0.100 None 0
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 121 8 0.100 None 0
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.100 None 0
MEGALOBLASTIC ANEMIA 1, NORWEGIAN TYPE
disease Finding 1 2 0.100 None 0 2
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 294 116 0.080 None 1.000 8 1981 2019
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 38 2 0.030 None 1.000 3 1990 2015
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome
group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.020 None 1.000 2 2003 2011
CUI: C0037928
Disease: Spinal Cord Diseases
Spinal Cord Diseases
group Nervous System Diseases Disease or Syndrome 84 3 0.020 None 1.000 2 2008 2015
CUI: C0005956
Disease: Bone Marrow Diseases
Bone Marrow Diseases
group Hemic and Lymphatic Diseases Disease or Syndrome 84 3 0.010 None 1.000 1 2015 2015
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
disease Nutritional and Metabolic Diseases Disease or Syndrome 19 9 0.010 None 1.000 1 2010 2010