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: 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: 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: C1862322
Disease: Ovalocytosis, Malaysian-Melanesian-Filipino Type
Ovalocytosis, Malaysian-Melanesian-Filipino Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 9 5 0.800 strong 0.955 22 5 1991 2019
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		disease Nutritional and Metabolic Diseases Disease or Syndrome 218 60 0.750 strong 1.000 9 5 1991 2019
CUI: C1969038
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
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: 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: 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: 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: 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: C0427480
Disease: Elliptocytosis found
Elliptocytosis found 		phenotype Finding 12 0.400 None 1.000 1 1998 1998
CUI: C1832168
Disease: BLOOD GROUP--FROESE
BLOOD GROUP--FROESE 		phenotype Finding 1 2 0.400 moderate 0 2
CUI: C1862191
Disease: BLOOD GROUP--WALDNER TYPE
BLOOD GROUP--WALDNER TYPE 		phenotype Finding 1 2 0.400 moderate 0 2
CUI: C1862190
Disease: BLOOD GROUP--WRIGHT ANTIGEN
BLOOD GROUP--WRIGHT ANTIGEN 		phenotype Amino Acid, Peptide, or Protein; Immunologic Factor 1 2 0.400 moderate 0 2
CUI: C1970028
Disease: MALARIA, SUSCEPTIBILITY TO (finding)
MALARIA, SUSCEPTIBILITY TO (finding) 		disease Finding 5 23 0.400 moderate 0 1
CUI: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 685 148 0.350 None 1.000 5 1996 2009
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 92 6 0.310 limited < 0.001 1 2018 2018
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 79 5 0.310 limited < 0.001 1 2018 2018
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 13 4 0.300 None 1.000 2 1997 2013
CUI: C1862324
Disease: Elliptocytosis 4
Elliptocytosis 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 6 0.300 None 1.000 2 2013 2013
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 20 3 0.300 None 1.000 1 2005 2005
CUI: C0018939
Disease: Hematological Disease
Hematological Disease 		group Hemic and Lymphatic Diseases Disease or Syndrome 255 16 0.300 None 1.000 1 1993 1993
CUI: C0002889
Disease: Anemia, Microangiopathic
Anemia, Microangiopathic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 13 0.300 None 1.000 1 2005 2005
CUI: C0221409
Disease: Anemia, hereditary spherocytic hemolytic
Anemia, hereditary spherocytic hemolytic 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 5 0.300 None 1.000 1 2013 2013
CUI: C0221021
Disease: Microangiopathic hemolytic anemia
Microangiopathic hemolytic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 31 0.300 None 1.000 1 2005 2005
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.300 None 1.000 1 2009 2009