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: rs180177286
rs180177286
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		G 0.700 CausalMutation CLINVAR Progressive polyradiculoneuropathy due to intraneural oxalate deposition in type 1 primary hyperoxaluria. 25363903 2015
dbSNP: rs180177286
rs180177286
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		G 0.700 CausalMutation CLINVAR Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 25644115 2015
dbSNP: rs180177286
rs180177286
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		G 0.700 CausalMutation CLINVAR Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 25629080 2015
dbSNP: rs180177286
rs180177286
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		G 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: rs180177286
rs180177286
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		G 0.700 CausalMutation CLINVAR Two-dimensional self-assembly of disulfide functionalized bis-acylurea: a nanosheet template for gold nanoparticle arrays. 20544097 2010
dbSNP: rs180177286
rs180177286
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		G 0.700 CausalMutation CLINVAR The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1. 15110324 2004
dbSNP: rs180177286
rs180177286
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		G 0.700 CausalMutation CLINVAR Identification of 5 novel mutations in the AGXT gene. 10862087 2000