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
0.800 GeneticVariation UNIPROT
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: 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: rs200529020
rs200529020
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III
A 0.700 GeneticVariation CLINVAR
dbSNP: rs746776892
rs746776892
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III
G 0.700 GeneticVariation CLINVAR
dbSNP: rs749315029
rs749315029
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III
A 0.700 GeneticVariation CLINVAR
dbSNP: rs764396564
rs764396564
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III
T 0.700 CausalMutation CLINVAR
dbSNP: rs770050262
rs770050262
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III
A 0.700 CausalMutation CLINVAR
dbSNP: rs776817346
rs776817346
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III
G 0.700 GeneticVariation CLINVAR
dbSNP: rs777683624
rs777683624
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III
A 0.700 GeneticVariation CLINVAR
dbSNP: rs796052091
rs796052091
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III
G 0.700 CausalMutation CLINVAR
dbSNP: rs924232072
rs924232072
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III
GGGTCT 0.700 GeneticVariation CLINVAR
dbSNP: rs990830655
rs990830655
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
CUI: C3150878
Disease:
Primary hyperoxaluria type III
G 0.700 GeneticVariation CLINVAR
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 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 4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition. 22771891 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: 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: 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: 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: 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