PGAM2, phosphoglycerate mutase 2, 5224

N. diseases: 22; N. variants: 6
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: C0268149
Disease: Glycogen storage disease type X
Glycogen storage disease type X 		disease Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 2 5 0.730 None 1.000 6 5 1993 2017
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 63 16 0.310 limited 1.000 1 1999 1999
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.300 None 1.000 1 2007 2007
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.300 None 1.000 1 2007 2007
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.110 None 1.000 1 2006 2006
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype Musculoskeletal Diseases Pathologic Function 36 15 0.100 None 1.000 1 1 2017 2017
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C0027080
Disease: Myoglobinuria
Myoglobinuria 		phenotype Musculoskeletal Diseases Finding 17 1 0.100 None 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		phenotype Finding 76 7 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 37 4 0.100 None 0
CUI: C1855578
Disease: Exercise-induced muscle cramps
Exercise-induced muscle cramps 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 8 1 0.100 None 0
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.010 None < 0.001 1 2017 2017
CUI: C0270984
Disease: Metabolic myopathy
Metabolic myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 2 0.010 None 1.000 1 1999 1999
CUI: C0268634
Disease: Disorder of fatty acid metabolism
Disorder of fatty acid metabolism 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2017 2017
CUI: C0268104
Disease: Disorder of purine metabolism
Disorder of purine metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 14 19 0.010 None 1.000 1 1990 1990
CUI: C0234119
Disease: Neuromuscular inhibition
Neuromuscular inhibition 		disease Disease or Syndrome 72 2 0.010 None 1.000 1 2017 2017
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 42 24 0.010 None 1.000 1 1990 1990
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2014 2014
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 2018 2018
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1235 197 0.010 None < 0.001 1 2017 2017