PKLR, pyruvate kinase L/R, 5313

N. diseases: 8; N. variants: 66
Source: CURATED ×
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 1 61 1.000 strong 1.000 20 61 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 108 0.500 None 1.000 1 2006 2010
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group Nutritional and Metabolic Diseases Disease or Syndrome 11 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 108 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 774 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 108 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 9 10 0.300 None 1.000 1 2012 2012