PMID-sentid	Pub_year	Sent_text		comp_official_name	comp_offsetprotein_name	organism	prot_offset
26089585-6	2015	Patients with PRS-I superactivity demonstrate uric acid overproduction, hypotonia, ataxia, neurodevelopment abnormalities, and postlingual hearing impairment.	Uric Acid	46-55	phosphoribosyl pyrophosphate synthetase 1	Homo sapiens	14-19	
30423175-1	2018	Objectives: Phosphoribosylpyrophosphate synthetase (PRPS1) superactivity is an X-linked disorder characterized by urate overproduction Online Mendelian Inheritance in Man (OMIM) gene reference 300661.	Uric Acid	114-119	phosphoribosyl pyrophosphate synthetase 1	Homo sapiens	52-57	
30423175-9	2018	Conclusion: Clinical findings in previously reported females with PRPS1 superactivity showed a high clinical penetrance of this disorder with a mean serum urate level of 8.5 (4.1) mg/dl [506 (247) mumol/l] and a high prevalence of gout.	Uric Acid	155-160	phosphoribosyl pyrophosphate synthetase 1	Homo sapiens	66-71	
22246954-1	2012	We identified a novel missense mutation, c.424G>C (p.Val142Leu) in PRPS1 in a patient with uric acid overproduction without gout but with developmental delay, hypotonia, hearing loss, and recurrent respiratory infections.	Uric Acid	94-103	phosphoribosyl pyrophosphate synthetase 1	Homo sapiens	70-75	
22246954-7	2012	Our results show that missense mutations in PRPS1 can cause a continuous spectrum of features ranging from progressive non-syndromic postlingual hearing impairment to uric acid overproduction, neuropathy, and recurrent infections depending on the functional sites that are affected.	Uric Acid	167-176	phosphoribosyl pyrophosphate synthetase 1	Homo sapiens	44-49	
20380929-5	2010	Patients with PRS-I superactivity primarily present with uric acid overproduction, mental retardation, ataxia, hypotonia, and hearing impairment.	Uric Acid	57-66	phosphoribosyl pyrophosphate synthetase 1	Homo sapiens	14-19	
17701896-7	2007	The loss-of-function mutations of PRPS1 likely result in impaired purine biosynthesis, which is supported by the undetectable hypoxanthine in urine and the reduced uric acid levels in serum from patients.	Uric Acid	164-173	phosphoribosyl pyrophosphate synthetase 1	Homo sapiens	34-39	
12847698-3	2003	Results of enzymatic and genetic studies supported the view that accelerated purine nucleotide and uric acid production in this woman resulted from defective allosteric regulation of PRS activity, which is, in turn, a consequence of a mutation in one of the patient"s PRPS1 genes: an A-to-T substitution at nucleotide 578, encoding leucine for histidine at amino acid residue 192 of the mature PRS1 isoform.	Uric Acid	99-108	phosphoribosyl pyrophosphate synthetase 1	Homo sapiens	268-273