DisGeNET - a database of gene-disease associations

HPRT1, hypoxanthine phosphoribosyltransferase 1, 3251

N. diseases: 210; N. variants: 42

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137852483

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.

24940672

2014

dbSNP:

rs137852488

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.

24940672

2014

dbSNP:

rs137852483

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.

20544509

2010

dbSNP:

rs137852488

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.

20544509

2010

dbSNP:

rs137852483

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.

17027311

2007

dbSNP:

rs137852488

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.

17027311

2007

dbSNP:

rs137852483

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.

15571223

2004

dbSNP:

rs137852488

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.

15571223

2004

dbSNP:

rs137852483

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.

9452051

1998

dbSNP:

rs137852488

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.

9452051

1998

dbSNP:

rs137852483

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies.

7627191

1995

dbSNP:

rs137852488

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies.

7627191

1995

dbSNP:

rs137852488

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

BEFREE

A G-to-A substitution at base 208 in exon 3, which predicted glycine 70 to arginine, was detected in the LNS patient (identical mutation with HPRT Utrecht).

8112742

1994

dbSNP:

rs137852483

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.

2071157

1991

dbSNP:

rs137852488

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.

2071157

1991

dbSNP:

rs137852483

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.

2358296

1990

dbSNP:

rs137852483

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).

2246854

1990

dbSNP:

rs137852483

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.

2347587

1990

dbSNP:

rs137852488

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).

2246854

1990

dbSNP:

rs137852488

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.

2358296

1990

dbSNP:

rs137852488

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.

2347587

1990

dbSNP:

rs137852483

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.

2910902

1989

dbSNP:

rs137852483

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.

2572141

1989

dbSNP:

rs137852488

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.

2910902

1989

dbSNP:

rs137852488

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0023374
Disease:

Lesch-Nyhan Syndrome

0.810

GeneticVariation

UNIPROT

Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.

2572141

1989