rs138207257, HOGA1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary hyperoxaluria type III
CUI: C3150878
Disease: Primary hyperoxaluria type III
0.800 GeneticVariation CLINVAR 4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition. 22771891 2012
Primary hyperoxaluria type III
CUI: C3150878
Disease: Primary hyperoxaluria type III
0.800 GeneticVariation CLINVAR The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. 22391140 2012
Primary hyperoxaluria type III
CUI: C3150878
Disease: Primary hyperoxaluria type III
0.800 CausalMutation CLINVAR 4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition. 22771891 2012
Primary hyperoxaluria type III
CUI: C3150878
Disease: Primary hyperoxaluria type III
0.800 CausalMutation CLINVAR The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. 22391140 2012
Primary hyperoxaluria type III
CUI: C3150878
Disease: Primary hyperoxaluria type III
0.800 CausalMutation CLINVAR Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. 21896830 2011
Primary hyperoxaluria type III
CUI: C3150878
Disease: Primary hyperoxaluria type III
0.800 GeneticVariation CLINVAR Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria. 21998747 2011
Primary hyperoxaluria type III
CUI: C3150878
Disease: Primary hyperoxaluria type III
0.800 GeneticVariation CLINVAR Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. 21896830 2011
Primary hyperoxaluria type III
CUI: C3150878
Disease: Primary hyperoxaluria type III
0.800 CausalMutation CLINVAR Mutations in DHDPSL are responsible for primary hyperoxaluria type III. 20797690 2010
Primary hyperoxaluria type III
CUI: C3150878
Disease: Primary hyperoxaluria type III
0.800 GeneticVariation CLINVAR Mutations in DHDPSL are responsible for primary hyperoxaluria type III. 20797690 2010
Primary hyperoxaluria type III
CUI: C3150878
Disease: Primary hyperoxaluria type III
0.800 GeneticVariation UNIPROT
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
0.010 GeneticVariation BEFREE The p.Pro190Leu mutation was reported with impaired renal function at follow-up; however, the p.Gly287Val was presented with normal renal function. 27561601 2017