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 | ||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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AC | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TT | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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GGGTCT | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | Mutations in DHDPSL are responsible for primary hyperoxaluria type III. | 20797690 | 2010 | ||||||
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T | 0.800 | GeneticVariation | CLINVAR | Mutations in DHDPSL are responsible for primary hyperoxaluria type III. | 20797690 | 2010 | ||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in DHDPSL are responsible for primary hyperoxaluria type III. | 20797690 | 2010 | |||||||
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G | 0.800 | CausalMutation | CLINVAR | Mutations in DHDPSL are responsible for primary hyperoxaluria type III. | 20797690 | 2010 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Mutations in DHDPSL are responsible for primary hyperoxaluria type III. | 20797690 | 2010 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Mutations in DHDPSL are responsible for primary hyperoxaluria type III. | 20797690 | 2010 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Mutations in DHDPSL are responsible for primary hyperoxaluria type III. | 20797690 | 2010 | ||||||
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T | 0.800 | CausalMutation | CLINVAR | Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. | 21896830 | 2011 |