DisGeNET - a database of gene-disease associations

HPRT1, hypoxanthine phosphoribosyltransferase 1, 3251

N. diseases: 210; N. variants: 42

Disease: Dystonia ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

Attenuated variants of Lesch-Nyhan disease.

2010

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.400

Biomarker

phenotype

HPO

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.400

Biomarker

phenotype

GENOMICS_ENGLAND