Disease: Primary hyperoxaluria, type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177201
rs180177201
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		AC 0.700 CausalMutation CLINVAR Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. 17495019 2007
dbSNP: rs180177201
rs180177201
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		A 0.700 GeneticVariation CLINVAR Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. 17495019 2007
dbSNP: rs180177201
rs180177201
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		A 0.700 CausalMutation CLINVAR Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. 17495019 2007
dbSNP: rs180177201
rs180177201
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		A 0.700 GeneticVariation CLINVAR Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1. 16850020 2006
dbSNP: rs180177201
rs180177201
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		A 0.700 GeneticVariation CLINVAR The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1. 15963748 2006
dbSNP: rs180177201
rs180177201
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		A 0.700 GeneticVariation CLINVAR AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. 11562405 2001
dbSNP: rs180177201
rs180177201
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		AC 0.700 CausalMutation CLINVAR Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene. 10453743 1999
dbSNP: rs180177201
rs180177201
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		A 0.700 CausalMutation CLINVAR Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene. 10453743 1999
dbSNP: rs180177201
rs180177201
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		A 0.700 GeneticVariation CLINVAR Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene. 10453743 1999