PGM1, phosphoglucomutase 1, 5236

N. diseases: 72; N. variants: 35
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: C2752015
Disease: Glycogen Storage Disease XIV
Glycogen Storage Disease XIV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 17 0.700 None 1.000 8 17 2009 2016
CUI: C3808991
Disease: NGLY1 deficiency
NGLY1 deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 19 0.300 strong 1.000 2 2016 2016
CUI: C1837899
Disease: Type I transferrin isoform profile
Type I transferrin isoform profile 		phenotype Finding 16 0.100 None 0
CUI: C0234935
Disease: Acute urticaria
Acute urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 17 0.010 None < 0.001 1 1979 1979
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 2017 2017
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 52 6 0.010 None 1.000 1 2017 2017
CUI: C0032969
Disease: Pregnancy in Diabetics
Pregnancy in Diabetics 		phenotype Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 53 1 0.020 None 1.000 2 1994 2001
CUI: C0024537
Disease: Malaria, Vivax
Malaria, Vivax 		disease Infections Disease or Syndrome 60 2 0.010 None < 0.001 1 1986 1986
CUI: C0678213
Disease: Complete hydatidiform mole
Complete hydatidiform mole 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 61 3 0.010 None 1.000 1 1987 1987
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 62 27 0.020 None 1.000 2 2016 2019
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 0.330 strong 1.000 5 2013 2018
CUI: C0039231
Disease: Tachycardia
Tachycardia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 73 8 0.100 None 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		phenotype Finding 76 7 0.100 None 0
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 83 46 0.010 None 1.000 1 1979 1979
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		disease Congenital Abnormality 97 7 0.100 None 0
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 102 38 0.090 None 1.000 9 2017 2019
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		disease Infections; Cardiovascular Diseases Disease or Syndrome 102 33 0.010 None 1.000 1 1985 1985
CUI: C0282313
Disease: Condition, Preneoplastic
Condition, Preneoplastic 		disease Neoplasms Neoplastic Process 122 0.010 None 1.000 1 2011 2011
CUI: C0024535
Disease: Malaria, Falciparum
Malaria, Falciparum 		disease Infections Disease or Syndrome 158 19 0.010 None 1.000 1 1986 1986
CUI: C0039538
Disease: Teratoma
Teratoma 		disease Neoplasms Neoplastic Process 171 8 0.010 None 1.000 1 1982 1982
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		phenotype Endocrine System Diseases Pathologic Function 196 21 0.100 None 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.010 None < 0.001 1 1982 1982
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		phenotype Behavior and Behavior Mechanisms Individual Behavior 210 535 0.100 None 1.000 1 17 2011 2011
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.010 None 1.000 1 2018 2018