HOGA1, 4-hydroxy-2-oxoglutarate aldolase 1, 112817

N. diseases: 15; N. variants: 44
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138207257
rs138207257
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
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
dbSNP: rs202047589
rs202047589
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
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
dbSNP: rs746419489
rs746419489
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C0020501
Disease:
Primary Hyperoxaluria 		0.010 GeneticVariation BEFREE The detection of a patient with two novel nonsense mutations within exon 1 of the gene, c.117C > A (p.Tyr39X) and c.208C > T (p.Arg70X), provides definitive proof that PH Type 3 is due to deficiency of the 4-hydroxy-2-oxoglutarate aldolase enzyme. 22391140 2012
dbSNP: rs758304537
rs758304537
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C0020501
Disease:
Primary Hyperoxaluria 		0.010 GeneticVariation BEFREE The detection of a patient with two novel nonsense mutations within exon 1 of the gene, c.117C > A (p.Tyr39X) and c.208C > T (p.Arg70X), provides definitive proof that PH Type 3 is due to deficiency of the 4-hydroxy-2-oxoglutarate aldolase enzyme. 22391140 2012
dbSNP: rs138207257
rs138207257
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.800 CausalMutation CLINVAR Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. 21896830 2011
dbSNP: rs138207257
rs138207257
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.800 CausalMutation CLINVAR Mutations in DHDPSL are responsible for primary hyperoxaluria type III. 20797690 2010
dbSNP: rs138207257
rs138207257
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.800 GeneticVariation CLINVAR Mutations in DHDPSL are responsible for primary hyperoxaluria type III. 20797690 2010
dbSNP: rs138207257
rs138207257
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.800 GeneticVariation CLINVAR 4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition. 22771891 2012
dbSNP: rs138207257
rs138207257
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.800 GeneticVariation CLINVAR The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. 22391140 2012
dbSNP: rs138207257
rs138207257
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.800 GeneticVariation CLINVAR Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria. 21998747 2011
dbSNP: rs138207257
rs138207257
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.800 CausalMutation CLINVAR 4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition. 22771891 2012
dbSNP: rs138207257
rs138207257
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.800 GeneticVariation CLINVAR Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. 21896830 2011
dbSNP: rs138207257
rs138207257
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.800 CausalMutation CLINVAR The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. 22391140 2012
dbSNP: rs267606764
rs267606764
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		G 0.800 CausalMutation CLINVAR Mutations in DHDPSL are responsible for primary hyperoxaluria type III. 20797690 2010
dbSNP: rs1419840309
rs1419840309
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1419840309
rs1419840309
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1425736036
rs1425736036
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		AC 0.700 GeneticVariation CLINVAR
dbSNP: rs149150736
rs149150736
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.700 CausalMutation CLINVAR The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. 22391140 2012
dbSNP: rs1554874130
rs1554874130
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554874148
rs1554874148
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1564760008
rs1564760008
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		TT 0.700 CausalMutation CLINVAR
dbSNP: rs185803104
rs185803104
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.700 CausalMutation CLINVAR Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 25644115 2015
dbSNP: rs185803104
rs185803104
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.700 CausalMutation CLINVAR Mutations in DHDPSL are responsible for primary hyperoxaluria type III. 20797690 2010
dbSNP: rs185803104
rs185803104
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.700 CausalMutation CLINVAR Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. 21896830 2011
dbSNP: rs185803104
rs185803104
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.700 CausalMutation CLINVAR The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. 22391140 2012