| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy. | 29526615 | 2018 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease. | 26917598 | 2016 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. | 19136963 | 2009 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. | 18593870 | 2008 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ETHE1 mutations are specific to ethylmalonic encephalopathy. | 16183799 | 2006 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. | 14732903 | 2004 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. | 14732903 | 2004 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
CT | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR |