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

N. diseases: 15; N. variants: 44
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 Biomarker disease CTD_human
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 GermlineCausalMutation disease ORPHANET
CUI: C0020500
Disease: Hyperoxaluria
Hyperoxaluria 		0.610 Biomarker disease HPO
CUI: C0020500
Disease: Hyperoxaluria
Hyperoxaluria 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria 		0.550 Biomarker disease GENOMICS_ENGLAND
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		0.110 Biomarker disease HPO
CUI: C0013428
Disease: Dysuria
Dysuria 		0.100 Biomarker phenotype HPO
CUI: C0018965
Disease: Hematuria
Hematuria 		0.100 Biomarker phenotype HPO
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		0.100 Biomarker disease HPO
CUI: C0030193
Disease: Pain
Pain 		0.100 Biomarker phenotype HPO
CUI: C0042023
Disease: Increased frequency of micturition
Increased frequency of micturition 		0.100 Biomarker phenotype HPO
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 GeneticVariation disease CLINVAR Mutations in DHDPSL are responsible for primary hyperoxaluria type III. 20797690 2010
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 CausalMutation disease CLINVAR Mutations in DHDPSL are responsible for primary hyperoxaluria type III. 20797690 2010
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 GeneticVariation disease UNIPROT Mutations in DHDPSL are responsible for primary hyperoxaluria type III. 20797690 2010
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		0.780 GeneticVariation disease BEFREE Mutations in DHDPSL are responsible for primary hyperoxaluria type III. 20797690 2010
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria 		0.550 GeneticVariation disease BEFREE We determined that mutations in an uncharacterized gene, DHDPSL, on chromosome 10 cause a third type of PH (PH III). 20797690 2010
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
CUI: C0020500
Disease: Hyperoxaluria
Hyperoxaluria 		0.610 Biomarker disease BEFREE HOGA1 heterozygosity was found in two patients with mild hyperoxaluria and in three of 100 idiopathic calcium oxalate stone formers. 21896830 2011
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		0.110 AlteredExpression disease BEFREE Detection of HOGA1 variants in idiopathic calcium oxalate urolithiasis also suggests HOGA1 may be a predisposing factor for this condition. 21896830 2011
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