|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Severe early onset ethylmalonic encephalopathy with West syndrome.
|
26194623 |
2015 |
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
We found that thiosulfate was excreted in massive amounts in urine of both Ethe1(-/-) mice and humans with ethylmalonic encephalopathy.
|
19136963 |
2009 |
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
However, given its role in EE, the name of the gene has been changed to "ETHE1."
|
14732903 |
2004 |
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.
|
16828325 |
2006 |
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
14 patients with EE were investigated for mutations in the ETHE1 gene.
|
18593870 |
2008 |
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
14 patients with EE were investigated for mutations in the ETHE1 gene.
|
18593870 |
2008 |
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
ETHE1 mutations are specific to ethylmalonic encephalopathy.
|
16183799 |
2006 |
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
Biomarker
|
disease |
MGD |
We found that thiosulfate was excreted in massive amounts in urine of both Ethe1(-/-) mice and humans with ethylmalonic encephalopathy.
|
19136963 |
2009 |
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
14 patients with EE were investigated for mutations in the ETHE1 gene.
|
18593870 |
2008 |
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
However, given its role in EE, the name of the gene has been changed to "ETHE1."
|
14732903 |
2004 |
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
14 patients with EE were investigated for mutations in the ETHE1 gene.
|
18593870 |
2008 |
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
ETHE1, result in ethylmalonic encephalopathy, an inborn error of metabolism.
|
23144459 |
2012 |
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
14 patients with EE were investigated for mutations in the ETHE1 gene.
|
18593870 |
2008 |
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|