DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: 2,8-Dihydroxyadenine Urolithiasis ×

Gene: APRT ×

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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	353
Gene Symbol:	APRT

APRT

CUI:	C3665382
Disease:	2,8-Dihydroxyadenine Urolithiasis

2,8-Dihydroxyadenine Urolithiasis

0.800

GermlineCausalMutation

ORPHANET

Adenine phosphoribosyltransferase deficiency.

22700886

2012

Entrez Id:	353
Gene Symbol:	APRT

APRT

CUI:	C3665382
Disease:	2,8-Dihydroxyadenine Urolithiasis

2,8-Dihydroxyadenine Urolithiasis

0.800

Biomarker

CTD_human