PKLR, pyruvate kinase L/R, 5313

N. diseases: 79; N. variants: 70
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: C0340968
Disease: Deficiency of pyruvate kinase
Deficiency of pyruvate kinase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 10 63 1.000 strong 1.000 53 62 1991 2019
CUI: C1863224
Disease: Adenosine Triphosphate, Elevated, Of Erythrocytes
Adenosine Triphosphate, Elevated, Of Erythrocytes 		disease Hemic and Lymphatic Diseases Disease or Syndrome 1 3 0.600 None 1.000 1 3 1997 1997
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.500 None 1.000 2 2006 2010
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group Nutritional and Metabolic Diseases Disease or Syndrome 17 1 0.300 strong 1.000 2 1991 1996
CUI: C0002152
Disease: Alloxan Diabetes
Alloxan Diabetes 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 112 0.300 None 1.000 1 2010 2010
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C0038433
Disease: Streptozotocin Diabetes
Streptozotocin Diabetes 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 112 0.300 None 1.000 1 2010 2010
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		disease Hemic and Lymphatic Diseases Disease or Syndrome 29 14 0.300 None 1.000 1 2012 2012
CUI: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 685 148 0.240 None 1.000 6 2 2003 2017
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 300 0.200 None 1.000 1 2006 2006
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.200 None 1.000 1 1996 1996
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		phenotype Finding 90 119 0.100 None 1.000 1 1 2019 2019
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 2 2016 2016
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.100 None 1.000 1 1 2018 2018
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 40 1 0.100 None 0
CUI: C0151900
Disease: Serum iron raised
Serum iron raised 		phenotype Nutritional and Metabolic Diseases Finding 10 0.100 None 0
CUI: C0221278
Disease: Anisocytosis
Anisocytosis 		phenotype Finding 16 1 0.100 None 0
CUI: C0221281
Disease: Poikilocytosis
Poikilocytosis 		phenotype Finding 14 0.100 None 0
CUI: C4476595
Disease: Reduced red cell pyruvate kinase activity
Reduced red cell pyruvate kinase activity 		phenotype Cell or Molecular Dysfunction 1 0.100 None 0
CUI: C0241013
Disease: Increased serum ferritin
Increased serum ferritin 		phenotype Finding 23 1 0.100 None 0
CUI: C1387532
Disease: Chronic hemolytic anemia
Chronic hemolytic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 15 5 0.100 None 0 1
CUI: C0559506
Disease: Neonatal unconjugated hyperbilirubinemia
Neonatal unconjugated hyperbilirubinemia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 2 2 0.100 None 0 1
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 59 14 0.100 None 0
CUI: C2698117
Disease: Anisocyte Measurement
Anisocyte Measurement 		phenotype Laboratory Procedure 15 0.100 None 0
CUI: C4022546
Disease: Reduced erythrocyte 2,3-diphosphoglycerate concentration
Reduced erythrocyte 2,3-diphosphoglycerate concentration 		phenotype Finding 2 0.100 None 0