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.
MEGALOBLASTIC ANEMIA 1, NORWEGIAN TYPE
disease Finding 1 2 0.100 None 0 2
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 121 8 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
CUI: C0750292
Disease: Malabsorption of Vitamin B12
Malabsorption of Vitamin B12
phenotype Finding 3 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: C1837352
Disease: Childhood onset
Childhood onset
phenotype Finding 56 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: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 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: 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: 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: 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: C0040580
Disease: Tracheal Diseases
Tracheal Diseases
group Respiratory Tract Diseases Disease or Syndrome 155 1 0.010 None 1.000 1 1990 1990
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: 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: 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: 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: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.010 None 1.000 1 2005 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2005 2005
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1172 115 0.010 None 1.000 1 2005 2005
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.010 None 1.000 1 2005 2005
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: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
disease Neoplasms Neoplastic Process 122 20 0.010 None 1.000 1 2006 2006
CUI: C0027960
Disease: Nevus
Nevus
disease Neoplasms Neoplastic Process 125 43 0.010 None 1.000 1 2006 2006