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: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 23 18 0.800 None 0.964 56 10 1997 2019
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 53 13 0.600 None 1.000 21 3 1992 2019
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 23 0.900 None 1.000 18 23 1991 2005
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 52 3 0.690 None 1.000 15 1996 2013
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.450 None 1.000 6 2 1997 2012
CUI: C0024530
Disease: Malaria
Malaria
disease Infections Disease or Syndrome 685 148 0.350 None 1.000 5 1996 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.050 None 0.800 5 2012 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.050 None 1.000 5 2017 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.050 None 1.000 5 2011 2019
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 9 0.700 None 1.000 4 6 1998 2004
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 23 1 0.620 None 1.000 4 1992 2005
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 15 1 0.130 None 1.000 3 2007 2013
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 3 2 2016 2019
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 96 0.030 None 1.000 3 2011 2019
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.030 None 1.000 3 2011 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.030 None 1.000 3 2010 2019
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 13 0.030 None 1.000 3 2 2003 2019
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 3 2 2016 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.030 None 0.667 3 2002 2018
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.030 None 1.000 3 2011 2019
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 27 8 0.030 None 1.000 3 2006 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.030 None 0.667 3 2006 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2010 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2013 2019
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.020 None 1.000 2 2010 2019