Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GeneticVariation BEFREE Although different studies were conducted on LNS, information on codon usage bias (CUB) of HPRT1 gene is limited. 30818063

2020

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 Biomarker BEFREE Missense mutations in hypoxanthine phosphoribosyl transferase 1 (HPRT1) are associated with deficiencies such as Lesch-Nyhan disease and chronic gout, which have manifestations such as arthritis, neurodegeneration, and cognitive disorders. 30831305

2019

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GeneticVariation BEFREE Lesch-Nyhan disease (LND) is a rare X-linked genetic disorder, with complete hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, uric acid (UA), hypoxanthine and xanthine accumulation, and a devastating neurologic syndrome. 30740729

2019

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GeneticVariation BEFREE Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder caused by mutations in the HPRT1 gene. 31129767

2019

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GeneticVariation BEFREE Mutations in the HGPRT1 gene, which encodes hypoxanthine-guanine phosphoribosyltransferase (HGprt), housekeeping enzyme responsible for recycling purines, lead to Lesch-Nyhan disease (LND). 29305058

2018

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 Biomarker BEFREE Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). 30001695

2018

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 Biomarker BEFREE The neurological manifestations of Lesch-Nyhan disease (LND) have been attributed to the effect of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency on nervous system development. 29634397

2018

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 AlteredExpression BEFREE Patients with HPRT deficiency present low or undetectable HPRT activity in hemolysates, with increased adenine phosphoribosyltransferase (APRT) activity. 28782500

2017

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GeneticVariation BEFREE Molecular analysis reveals the heterogeneity of genetic mutation of the HPRT1 gene responsible for the HGprt deficiency. 28045594

2017

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GeneticVariation BEFREE Molecular analysis has revealed the heterogeneity of genetic mutation of the HPRT1 gene responsible for the HGprt deficiency. 28524722

2017

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 Biomarker BEFREE We applied ScanDel to HPRT1, the housekeeping gene underlying Lesch-Nyhan syndrome, an X-linked recessive disorder. 28712454

2017

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GeneticVariation CLINVAR Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein. 28045594

2017

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GeneticVariation BEFREE Molecular diagnosis is consistent with the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency. 29185864

2017

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GeneticVariation BEFREE Application of this kinetic method to the Lesch-Nyhan disease (LND) was performed and results indicated an epistasis between mutated hypoxanthine phosphoribosyltransferase1 (HPRT1) and APP genes. 28192196

2017

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 Biomarker CLINGEN A subcellular map of the human proteome. 28495876

2017

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GeneticVariation BEFREE Lesch-Nyhan disease (LND) is a rare X-linked recessive disorder caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), encoded by the HPRT1. 27754763

2017

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GeneticVariation BEFREE Here, we report the case of a family with 4 affected males and several female obligate carriers.In 1989, Fujimori et al. reported on a patient diagnosed with LNS who had an HPRT variant thereafter codenamed HPRTYale. 27420966

2016

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GeneticVariation BEFREE Mutation analysis revealed a deletion of exon 2 and 3 of the HPRT gene confirming the diagnosis of Lesch-Nyhan Disease (LND). 27185581

2016

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GeneticVariation BEFREE Herein, we report of two cousins with Lesch-Nyhan syndrome and a confirmed novel HPRT gene mutation: c.65T>C, who both developed nephrocalcinosis and renal failure, findings not been previously published in children with HPRT deficiency. 27079129

2016

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GeneticVariation BEFREE Molecular diagnosis discloses the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency. 27379977

2016

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 Biomarker GENOMICS_ENGLAND Herein, we report of two cousins with Lesch-Nyhan syndrome and a confirmed novel HPRT gene mutation: c.65T>C, who both developed nephrocalcinosis and renal failure, findings not been previously published in children with HPRT deficiency. 27079129

2016

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GeneticVariation BEFREE In the current review, we highlight the role of miRNAs in Lesch-Nyhan disease (LND), a rare neurogenetic syndrome caused by mutations in the purine metabolic gene encoding the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme. 26296934

2015

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 Biomarker BEFREE Neurological manifestations in Lesch-Nyhan disease (LND) are attributed to the effect of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency on the nervous system development. 25940910

2015

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GeneticVariation BEFREE Molecular diagnosis discloses the genetic heterogeneity of HPRT1 gene responsible for HGprt deficiency. 25965333

2015