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

N. diseases: 15; N. variants: 44
Disease: Primary hyperoxaluria type III ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796052092
rs796052092
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		A 0.700 CausalMutation CLINVAR 4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3. 24563386 2015
dbSNP: rs185803104
rs185803104
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.700 CausalMutation CLINVAR Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. 22781098 2013
dbSNP: rs755562733
rs755562733
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		A 0.700 CausalMutation CLINVAR Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. 22781098 2013
dbSNP: rs767405535
rs767405535
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.700 CausalMutation CLINVAR Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. 22781098 2013
dbSNP: rs796052085
rs796052085
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		A 0.700 CausalMutation CLINVAR Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. 22781098 2013
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: 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
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 III. 22851625 2012
dbSNP: rs201803986
rs201803986
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.700 GeneticVariation CLINVAR The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. 22391140 2012
dbSNP: rs201803986
rs201803986
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: rs397509360
rs397509360
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.700 CausalMutation CLINVAR 4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition. 22771891 2012
dbSNP: rs397509360
rs397509360
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: rs746419489
rs746419489
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		A 0.700 CausalMutation CLINVAR The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. 22391140 2012
dbSNP: rs752277936
rs752277936
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		T 0.700 GeneticVariation CLINVAR 4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition. 22771891 2012
dbSNP: rs758304537
rs758304537
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: rs796052087
rs796052087
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		C 0.700 CausalMutation CLINVAR The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. 22391140 2012
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: rs202047589
rs202047589
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: rs397509360
rs397509360
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: rs756489804
rs756489804
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: rs796052086
rs796052086
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 Mutations in DHDPSL are responsible for primary hyperoxaluria type III. 20797690 2010
dbSNP: rs267606763
rs267606763
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		C 0.700 CausalMutation CLINVAR Mutations in DHDPSL are responsible for primary hyperoxaluria type III. 20797690 2010
dbSNP: rs397509360
rs397509360
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: rs1419840309
rs1419840309
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III 		C 0.700 CausalMutation CLINVAR