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: rs180177301
rs180177301
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		T 0.700 GeneticVariation CLINVAR Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. 24988064 2014
dbSNP: rs180177301
rs180177301
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		T 0.700 GeneticVariation CLINVAR Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort. 22844106 2012
dbSNP: rs180177301
rs180177301
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		T 0.700 GeneticVariation CLINVAR AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. 11562405 2001
dbSNP: rs180177301
rs180177301
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		T 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
dbSNP: rs180177301
rs180177301
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		T 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