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

N. diseases: 15; N. variants: 44
Disease: Primary hyperoxaluria type III ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 GeneticVariation disease BEFREE Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population. 31401635 2019
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 Biomarker disease BEFREE We also propose that loss of HOGA1 function could increase oxalate production in PH3 by decreasing pyruvate availability and metabolic flux through the Krebs cycle. 31696211 2019
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 Biomarker disease BEFREE Genetic analysis (targeted gene panel-based and/or whole-exome sequencing) of HOGA1 was performed in 52 patients with a high suspicion of PH3, and DNA was obtained from the patient and both the parents. 31123811 2019
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 GeneticVariation disease BEFREE The aim of this study was to report three PH3 cases carrying mutations in HOGA1. 27561601 2017
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 GeneticVariation disease CLINVAR Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III. 28711958 2017
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 CausalMutation disease CLINVAR Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3. 27096395 2016
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 Biomarker disease BEFREE Primary hyperoxaluria type-3 is characterized by increased oxalate production caused by mutations in the HOGA1 gene encoding 4-hydroxy-2-oxoglutarate aldolase (HOGA1). 27096395 2016
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 GeneticVariation disease CLINVAR Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 25629080 2015
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 CausalMutation disease CLINVAR Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 25644115 2015
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 GeneticVariation disease CLINVAR 4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3. 24563386 2015
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 CausalMutation disease CLINVAR Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 25629080 2015
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 CausalMutation disease CLINVAR 4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3. 24563386 2015
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 GeneticVariation disease CLINVAR Renal function can be impaired in children with primary hyperoxaluria type 3. 25972204 2015
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 GeneticVariation disease BEFREE Primary hyperoxaluria type 3 (PH3) is characterized by mutations in the 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene. 25972204 2015
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 GeneticVariation disease BEFREE Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3. 26340091 2015
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 CausalMutation disease CLINVAR Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. 22781098 2013
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 GeneticVariation disease CLINVAR 4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition. 22771891 2012
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 CausalMutation disease CLINVAR The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III. 22851625 2012
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 CausalMutation disease CLINVAR 4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition. 22771891 2012
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 CausalMutation disease CLINVAR The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. 22391140 2012
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 GeneticVariation disease CLINVAR The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. 22391140 2012
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 CausalMutation disease CLINVAR Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. 21896830 2011
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 GeneticVariation disease CLINVAR Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. 21896830 2011
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 GeneticVariation disease CLINVAR Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria. 21998747 2011