PYGL, glycogen phosphorylase L, 5836

N. diseases: 32; N. variants: 22
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: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 15 22 0.720 None 1.000 7 19 1998 2017
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome 56 39 0.010 None 1.000 1 2007 2007
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 24 33 0.010 None 1.000 1 2007 2007
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 125 0.010 None 1.000 1 2007 2007
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 22 76 0.010 None 1.000 1 2007 2007
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic 		disease Digestive System Diseases; Chemically-Induced Disorders Injury or Poisoning 412 0.300 None 1.000 1 2015 2015
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		disease Musculoskeletal Diseases Disease or Syndrome 44 11 0.010 None 1.000 1 2007 2007
CUI: C0268147
Disease: Glycogen storage disease, type IX
Glycogen storage disease, type IX 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 14 4 0.010 None 1.000 1 2007 2007
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 418 0.300 None 1.000 1 2015 2015
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 879 168 0.100 None 1.000 1 1 2012 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.300 None 1.000 1 1987 1987
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 413 0.300 None 1.000 1 2015 2015
CUI: C3896673
Disease: Familial Nonmedullary Thyroid Gland Carcinoma
Familial Nonmedullary Thyroid Gland Carcinoma 		disease Neoplastic Process 31 6 0.010 None 1.000 1 2017 2017
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 461 38 0.300 None 1.000 1 2015 2015
CUI: C4279912
Disease: Chemically-Induced Liver Toxicity
Chemically-Induced Liver Toxicity 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 412 0.300 None 1.000 1 2015 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.100 None 0
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.100 None 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.100 None 0
CUI: C0271708
Disease: Fasting Hypoglycemia
Fasting Hypoglycemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 39 1 0.010 None 1.000 1 2012 2012
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		phenotype Laboratory Procedure 53 69 0.100 None 1.000 1 1 2019 2019
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 537 29 0.300 None 1.000 1 2015 2015
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.100 None 0