APRT, adenine phosphoribosyltransferase, 353

N. diseases: 384; N. variants: 12
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: C0268121
Disease: APRT deficiency, Japanese type
APRT deficiency, Japanese type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0034139
Disease: Purine-Pyrimidine Metabolism, Inborn Errors
Purine-Pyrimidine Metabolism, Inborn Errors 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.010 None 1.000 1 1982 1982
CUI: C3203622
Disease: Crystal nephropathy
Crystal nephropathy 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0268120
Disease: Adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 11 1.000 None 1.000 23 11 1986 2016
CUI: C0151236
Disease: Conduction system abnormalities
Conduction system abnormalities 		disease Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 3 19 0.010 None 1.000 1 1998 1998
CUI: C0340420
Disease: Cardiac glycogenosis
Cardiac glycogenosis 		disease Congenital Abnormality 3 0.010 None 1.000 1 2002 2002
CUI: C3179194
Disease: GALNS Deficiency
GALNS Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 1999 1999
CUI: C0268123
Disease: Muscle AMP deaminase deficiency
Muscle AMP deaminase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.010 None 1.000 1 1997 1997
CUI: C3899154
Disease: familial testicular germ cell tumor
familial testicular germ cell tumor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 4 0.010 None 1.000 1 2013 2013
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 0.800 None 1.000 16 1985 2012
CUI: C1442981
Disease: Alcoholic liver damage
Alcoholic liver damage 		disease Digestive System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
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 2019 2019
CUI: C1291390
Disease: Deficiency of phosphorylase kinase
Deficiency of phosphorylase kinase 		disease Disease or Syndrome 8 1 0.020 None 1.000 2 2005 2007
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 9 0.010 None 1.000 1 1983 1983
CUI: C1689817
Disease: Cardiomyopathy associated with another disorder
Cardiomyopathy associated with another disorder 		disease Cardiovascular Diseases Disease or Syndrome 10 0.010 None 1.000 1 2013 2013
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 11 40 0.040 None 1.000 4 2004 2010
CUI: C0011859
Disease: Lipoatrophic Diabetes Mellitus
Lipoatrophic Diabetes Mellitus 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2001 2001
CUI: C0025637
Disease: Methemoglobinemia
Methemoglobinemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 12 3 0.010 None 1.000 1 2003 2003
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 14 11 0.020 None 1.000 2 1993 1994
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 0.020 None 1.000 2 2005 2007
CUI: C0342495
Disease: Macronodular adrenal hyperplasia
Macronodular adrenal hyperplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2002 2002
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 16 11 0.010 None 1.000 1 2013 2013
CUI: C0302362
Disease: Brucella melitensis infection
Brucella melitensis infection 		disease Infections Disease or Syndrome 17 0.010 None 1.000 1 2017 2017
CUI: C1136135
Disease: Water Stress
Water Stress 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 17 0.010 None 1.000 1 2018 2018