Disease: Primary Hyperoxaluria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177273
rs180177273
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0020501
Disease:
Primary Hyperoxaluria 		TGA 0.700 CausalMutation CLINVAR [Oliguria and acute renal dysfunction in a six-month-old infant]. 28202121 2017
dbSNP: rs180177273
rs180177273
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0020501
Disease:
Primary Hyperoxaluria 		TGA 0.700 CausalMutation CLINVAR Left Lateral Sectionectomy of the Native Liver and Combined Living-Related Liver-Kidney Transplantation for Primary Hyperoxaluria Type 1. 26252291 2015
dbSNP: rs180177273
rs180177273
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0020501
Disease:
Primary Hyperoxaluria 		TGA 0.700 CausalMutation CLINVAR Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1. 24934730 2014
dbSNP: rs180177273
rs180177273
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0020501
Disease:
Primary Hyperoxaluria 		TGA 0.700 CausalMutation CLINVAR Novel mutations of the AGXT gene causing primary hyperoxaluria type 1. 15365967 2004