| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | GeneticVariation | CLINVAR | Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations. | 25511235 | 2015 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations. | 23751782 | 2013 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design. | 20346956 | 2010 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | The diagnosis of mitochondrial HMG-CoA synthase deficiency. | 12072887 | 2002 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Genetic basis of mitochondrial HMG-CoA synthase deficiency. | 11479731 | 2001 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Genetic basis of mitochondrial HMG-CoA synthase deficiency. | 11479731 | 2001 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR |