APRT, adenine phosphoribosyltransferase, 353

N. diseases: 384; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268120
Disease: Adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency 		1.000 Biomarker disease CTD_human
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis 		0.800 Biomarker disease CTD_human
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.170 Biomarker disease HPO
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.110 Biomarker disease HPO
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.110 Biomarker disease HPO
CUI: C0013428
Disease: Dysuria
Dysuria 		0.100 Biomarker phenotype HPO
CUI: C0018965
Disease: Hematuria
Hematuria 		0.100 Biomarker phenotype HPO
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		0.100 Biomarker disease HPO
CUI: C0268121
Disease: APRT deficiency, Japanese type
APRT deficiency, Japanese type 		0.100 CausalMutation disease CLINVAR
CUI: C0451641
Disease: Urolithiasis
Urolithiasis 		0.330 Biomarker disease CTD_human Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyl transferase. 7766 1976
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.030 AlteredExpression disease BEFREE In contrast, some hair roots from carriers of HPRT deficiency contained two zones of activity with the same relative proportion of APRT and HPRT as hair roots of normal homozygotes, while others contained decreased amounts of HPRT activity. 7398108 1980
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.010 Biomarker disease BEFREE The sera from patients with human Duchenne (X-linked) progressive muscular dystrophy contain elevated adenylate kinase (ATP: AMP phosphotransferase, EC 2.7.4.3) activities, in addition to their characteristically high creatine kinase (ATP; creatine N-phosphotransferase, EC 2.7.3.2) activities. 6269633 1981
CUI: C0034139
Disease: Purine-Pyrimidine Metabolism, Inborn Errors
Purine-Pyrimidine Metabolism, Inborn Errors 		0.010 Biomarker group BEFREE Adenine phosphoribosyltransferase in patients with disorders of purine and pyrimidine metabolism. 7061917 1982
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		0.010 Biomarker disease BEFREE Experimentally induced GSD-like conditions have been described in the rat (Acarbose-induced GSD II-like conditions, iodoacetate-induced symptoms of myophosphorylase (GSD V) and myophosphofructokinase (GSD VII) deficiency) and the chicken (ochratoxin A-induced symptoms of cyclic AMP-dependent protein kinase deficiency). 6408305 1983
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 Biomarker disease BEFREE Experimentally induced GSD-like conditions have been described in the rat (Acarbose-induced GSD II-like conditions, iodoacetate-induced symptoms of myophosphorylase (GSD V) and myophosphofructokinase (GSD VII) deficiency) and the chicken (ochratoxin A-induced symptoms of cyclic AMP-dependent protein kinase deficiency). 6408305 1983
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		0.010 Biomarker disease BEFREE Experimentally induced GSD-like conditions have been described in the rat (Acarbose-induced GSD II-like conditions, iodoacetate-induced symptoms of myophosphorylase (GSD V) and myophosphofructokinase (GSD VII) deficiency) and the chicken (ochratoxin A-induced symptoms of cyclic AMP-dependent protein kinase deficiency). 6408305 1983
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII 		0.010 Biomarker disease BEFREE Experimentally induced GSD-like conditions have been described in the rat (Acarbose-induced GSD II-like conditions, iodoacetate-induced symptoms of myophosphorylase (GSD V) and myophosphofructokinase (GSD VII) deficiency) and the chicken (ochratoxin A-induced symptoms of cyclic AMP-dependent protein kinase deficiency). 6408305 1983
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		0.010 Biomarker disease BEFREE Experimentally induced GSD-like conditions have been described in the rat (Acarbose-induced GSD II-like conditions, iodoacetate-induced symptoms of myophosphorylase (GSD V) and myophosphofructokinase (GSD VII) deficiency) and the chicken (ochratoxin A-induced symptoms of cyclic AMP-dependent protein kinase deficiency). 6408305 1983
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 Biomarker disease RGD The apparent Km values for adenine of liver and hepatoma adenine phosphoribosyltransferase were 0.6 to 0.9 microM, respectively. 6327016 1984
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.240 Biomarker group RGD The apparent Km values for adenine of liver and hepatoma adenine phosphoribosyltransferase were 0.6 to 0.9 microM, respectively. 6327016 1984
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.210 Biomarker disease RGD Enzymic capacities of purine de Novo and salvage pathways for nucleotide synthesis in normal and neoplastic tissues. 6327016 1984
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.200 Biomarker disease RGD Enzymic capacities of purine de Novo and salvage pathways for nucleotide synthesis in normal and neoplastic tissues. 6327016 1984
CUI: C2676033
Disease: Hepatoblastoma Caused By Somatic Mutation
Hepatoblastoma Caused By Somatic Mutation 		0.200 Biomarker disease RGD Enzymic capacities of purine de Novo and salvage pathways for nucleotide synthesis in normal and neoplastic tissues. 6327016 1984
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Differentiation of two tumor cell lines with dibutyryl cyclic AMP resulted in decreased anti-P15E reactivity. 6699546 1984
CUI: C0543800
Disease: Idiopathic hypercalciuria
Idiopathic hypercalciuria 		0.010 Biomarker disease BEFREE Major differences between the normal control and the family with IH include: (1) higher calcemic response in the family with IH (0.9 vs 0.4 mg/dl); (2) a fall in carboxyl-terminal PTH and urinary cyclic AMP in the IH family in contrast to control subjects in whom there were no changes; (3) a rise in serum phosphorus in the IH family (0.8 vs 0.2 mg/dl, p less than 0.05). 6087533 1984