DisGeNET - a database of gene-disease associations

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

N. diseases: 15; N. variants: 44

Disease: Primary hyperoxaluria type III ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs749315029

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

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

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3.

27096395

2016

dbSNP:

rs185803104

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

25644115

2015

dbSNP:

rs201803986

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

GeneticVariation

CLINVAR

4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3.

24563386

2015

dbSNP:

rs201803986

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

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

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

25644115

2015

dbSNP:

rs397509360

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

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

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3.

24563386

2015

dbSNP:

rs749315029

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

GeneticVariation

CLINVAR

Renal function can be impaired in children with primary hyperoxaluria type 3.

25972204

2015

dbSNP:

rs777046879

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

25644115

2015

dbSNP:

rs796052088

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

25644115

2015

dbSNP:

rs796052089

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

25644115

2015

dbSNP:

rs796052090

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

25644115

2015

dbSNP:

rs796052092

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3.

24563386

2015

dbSNP:

rs185803104

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.

22781098

2013

dbSNP:

rs755562733

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.

22781098

2013

dbSNP:

rs767405535

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.

22781098

2013

dbSNP:

rs796052085

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.

22781098

2013

dbSNP:

rs149150736

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.

22391140

2012

dbSNP:

rs185803104

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.

22391140

2012

dbSNP:

rs185803104

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III.

22851625

2012

dbSNP:

rs201803986

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

GeneticVariation

CLINVAR

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.

22391140

2012

dbSNP:

rs201803986

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.

22391140

2012

dbSNP:

rs397509360

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition.

22771891

2012

dbSNP:

rs397509360

Entrez Id:	112817
Gene Symbol:	HOGA1

HOGA1

CUI:	C3150878
Disease:

Primary hyperoxaluria type III

0.700

CausalMutation

CLINVAR

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.

22391140

2012