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: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.010 None 1.000 1 2007 2007
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
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: 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: 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
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: 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
CUI: C0009398
Disease: Color vision defect
Color vision defect
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 94 4 0.010 None 1.000 1 1990 1990
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.010 None 1.000 1 1990 1990
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.010 None 1.000 1 2014 2014
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: C0040580
Disease: Tracheal Diseases
Tracheal Diseases
group Respiratory Tract Diseases Disease or Syndrome 155 1 0.010 None 1.000 1 1990 1990
CUI: C0242225
Disease: Color blindness
Color blindness
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 33 4 0.010 None 1.000 1 1990 1990
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 154 14 0.010 None 1.000 1 2014 2014
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina
group Eye Diseases Disease or Syndrome 49 24 0.010 None 1.000 1 2018 2018
CUI: C1394891
Disease: Intrinsic Factor Deficiency
Intrinsic Factor Deficiency
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 18 6 0.010 None 1.000 1 2012 2012
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
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
disease Nutritional and Metabolic Diseases Disease or Syndrome 19 9 0.010 None 1.000 1 2010 2010
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
disease Disease or Syndrome 168 27 0.010 None 1.000 1 2014 2014
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 121 8 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: C0020580
Disease: Hypesthesia
Hypesthesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0
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