DisGeNET - a database of gene-disease associations

HPRT1, hypoxanthine phosphoribosyltransferase 1, 3251

N. diseases: 210; N. variants: 42

Disease: Gout, HPRT-Related ×

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:

rs137852477

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

24940672

2014

dbSNP:

rs137852478

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

24940672

2014

dbSNP:

rs137852479

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

24940672

2014

dbSNP:

rs137852482

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

24940672

2014

dbSNP:

rs137852484

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

24940672

2014

dbSNP:

rs137852485

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

24940672

2014

dbSNP:

rs137852494

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

24940672

2014

dbSNP:

rs137852498

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

24940672

2014

dbSNP:

rs137852499

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

24940672

2014

dbSNP:

rs137852500

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

24940672

2014

dbSNP:

rs137852501

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

24940672

2014

dbSNP:

rs137852504

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

24940672

2014

dbSNP:

rs387906725

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

24940672

2014

dbSNP:

rs137852477

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

20544509

2010

dbSNP:

rs137852478

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

20544509

2010

dbSNP:

rs137852479

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

20544509

2010

dbSNP:

rs137852482

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

20544509

2010

dbSNP:

rs137852484

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

20544509

2010

dbSNP:

rs137852485

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

20544509

2010

dbSNP:

rs137852494

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

20544509

2010

dbSNP:

rs137852498

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

20544509

2010

dbSNP:

rs137852499

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

20544509

2010

dbSNP:

rs137852500

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

20544509

2010

dbSNP:

rs137852501

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

20544509

2010

dbSNP:

rs137852504

Entrez Id:	3251
Gene Symbol:	HPRT1

HPRT1

CUI:	C0268117
Disease:

Gout, HPRT-Related

0.800

GeneticVariation

UNIPROT

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

20544509

2010