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: 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 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 CausalMutation 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 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 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 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 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: rs267606764
rs267606764
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		0.800 GeneticVariation UNIPROT Mutations in DHDPSL are responsible for primary hyperoxaluria type III. 20797690 2010
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: rs138207257
rs138207257
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		0.800 GeneticVariation UNIPROT
dbSNP: rs749315029
rs749315029
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.700 GeneticVariation CLINVAR Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III. 28711958 2017
dbSNP: rs397509360
rs397509360
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.700 CausalMutation CLINVAR Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3. 27096395 2016
dbSNP: rs7078003
rs7078003
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C0201874
Disease:
Amino acids measurement 		T 0.700 GeneticVariation GWASCAT Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. 27005778 2016
dbSNP: rs7078003
rs7078003
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C0202202
Disease:
Protein measurement 		T 0.700 GeneticVariation GWASCAT Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. 27005778 2016
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: rs201803986
rs201803986
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.700 GeneticVariation CLINVAR 4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3. 24563386 2015
dbSNP: rs201803986
rs201803986
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.700 GeneticVariation CLINVAR Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 25629080 2015
dbSNP: rs397509360
rs397509360
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: rs397509360
rs397509360
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 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: rs397509360
rs397509360
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.700 CausalMutation CLINVAR 4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3. 24563386 2015
dbSNP: rs749315029
rs749315029
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.700 GeneticVariation CLINVAR Renal function can be impaired in children with primary hyperoxaluria type 3. 25972204 2015
dbSNP: rs777046879
rs777046879
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		A 0.700 CausalMutation CLINVAR Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 25644115 2015
dbSNP: rs796052088
rs796052088
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		A 0.700 CausalMutation CLINVAR Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 25644115 2015