DisGeNET - a database of gene-disease associations

AGXT, alanine--glyoxylate and serine--pyruvate aminotransferase, 189

N. diseases: 94; N. variants: 169

Disease: Primary hyperoxaluria, type I ×

Variant: rs138584408 ×

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:

rs138584408

Entrez Id:	189
Gene Symbol:	AGXT

AGXT

CUI:	C0268164
Disease:

Primary hyperoxaluria, type I

0.700

CausalMutation

CLINVAR

Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.

24934730

2014

dbSNP:

rs138584408

Entrez Id:	189
Gene Symbol:	AGXT

AGXT

CUI:	C0268164
Disease:

Primary hyperoxaluria, type I

0.700

CausalMutation

CLINVAR

Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.

15365967

2004

dbSNP:

rs138584408

Entrez Id:	189
Gene Symbol:	AGXT

AGXT

CUI:	C0268164
Disease:

Primary hyperoxaluria, type I

0.700

GeneticVariation

CLINVAR