Disease: Primary Hyperoxaluria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908524
rs121908524
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0020501
Disease:
Primary Hyperoxaluria 		A 0.700 CausalMutation 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: rs121908524
rs121908524
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0020501
Disease:
Primary Hyperoxaluria 		A 0.700 CausalMutation CLINVAR Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. 17460142 2007