EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
4.1.3.16 | 4-hydroxy-2-oxoglutarate aldolase deficiency |
22729392 |
Primary hyperoxaluria type III-a model for studying perturbations in glyoxylate metabolism. |
causal interaction unassigned |
4 0 |
4.1.3.16 | 4-hydroxy-2-oxoglutarate aldolase deficiency |
22781098 |
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. |
causal interaction therapeutic application unassigned |
4 3 0 |
4.1.3.16 | Hyperoxaluria |
22781098 |
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. |
causal interaction therapeutic application unassigned |
4 3 0 |
4.1.3.16 | Hyperoxaluria |
33350326 |
Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease. |
causal interaction ongoing research unassigned |
4 3 0 |
4.1.3.16 | Hyperoxaluria, Primary |
20797690 |
Mutations in DHDPSL are responsible for primary hyperoxaluria type III. |
causal interaction unassigned |
3 0 |
4.1.3.16 | Hyperoxaluria, Primary |
21896830 |
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. |
diagnostic usage unassigned |
3 0 |
4.1.3.16 | Hyperoxaluria, Primary |
21998747 |
Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria. |
diagnostic usage ongoing research unassigned |
3 2 0 |
4.1.3.16 | Hyperoxaluria, Primary |
22115483 |
Re: Mutations in DHDPSL are Responsible for Primary Hyperoxaluria Type III. |
causal interaction unassigned |
4 0 |
4.1.3.16 | Hyperoxaluria, Primary |
22325509 |
Re: primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. |
diagnostic usage therapeutic application unassigned |
3 1 0 |
4.1.3.16 | Hyperoxaluria, Primary |
22391140 |
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. |
causal interaction diagnostic usage ongoing research unassigned |
4 3 2 0 |