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: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid 		phenotype Finding 8 0.100 None 0
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: 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: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.030 None 1.000 3 2005 2014
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.050 None 1.000 5 2001 2018
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 0.100 None 0
CUI: C0002882
Disease: Anemia, Hemolytic, Congenital Nonspherocytic
Anemia, Hemolytic, Congenital Nonspherocytic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 5 0.010 None 1.000 1 1996 1996
CUI: C2698117
Disease: Anisocyte Measurement
Anisocyte Measurement 		phenotype Laboratory Procedure 15 0.100 None 0
CUI: C0221278
Disease: Anisocytosis
Anisocytosis 		phenotype Finding 16 1 0.100 None 0
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		phenotype Finding 90 119 0.100 None 1.000 1 1 2019 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 1 2019 2019
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		disease Digestive System Diseases Disease or Syndrome 55 3 0.100 None 0
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		disease Digestive System Diseases Disease or Syndrome 252 90 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2016 2016
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.010 None 1.000 1 2016 2016
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: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2002 2002
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 2002 2002
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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.020 None 1.000 2 2 2002 2008
CUI: C4022892
Disease: Elevated transferrin saturation
Elevated transferrin saturation 		phenotype Finding 3 0.100 None 0
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group Nutritional and Metabolic Diseases Disease or Syndrome 17 1 0.300 strong 1.000 2 1991 1996
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 153 18 0.050 None 1.000 5 2009 2019
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