|
| 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 |
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 |
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 |
BEFREE |
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
|
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 |
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 |
BEFREE |
Mutation analysis of the ETHE1 gene demonstrated homozygosity for the Arg163Gly mutation, confirming the diagnosis of EE at a molecular level.
|
17712735 |
2007 |
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
No ETHE1 mutations were identified in non-EE EMA patients.
|
16183799 |
2006 |
|
| 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 |
ETHE1 mutations are specific to ethylmalonic encephalopathy.
|
16183799 |
2006 |
|
| 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 |
CausalMutation
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
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 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
23474 |
| Gene Symbol: |
ETHE1 |
ETHE1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
10188 |
| Gene Symbol: |
TNK2 |
TNK2
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.
|
23686771 |
2013 |
|
| Entrez Id: |
81603 |
| Gene Symbol: |
TRIM8 |
TRIM8
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
| Entrez Id: |
284346 |
| Gene Symbol: |
ZNF575 |
ZNF575
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.
|
29526615 |
2018 |
|
| Entrez Id: |
284346 |
| Gene Symbol: |
ZNF575 |
ZNF575
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.
|
26917598 |
2016 |
|
| Entrez Id: |
284346 |
| Gene Symbol: |
ZNF575 |
ZNF575
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.
|
19136963 |
2009 |
|
| Entrez Id: |
284346 |
| Gene Symbol: |
ZNF575 |
ZNF575
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
|
18593870 |
2008 |
|
| Entrez Id: |
284346 |
| Gene Symbol: |
ZNF575 |
ZNF575
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
ETHE1 mutations are specific to ethylmalonic encephalopathy.
|
16183799 |
2006 |
|
| Entrez Id: |
284346 |
| Gene Symbol: |
ZNF575 |
ZNF575
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
|
14732903 |
2004 |
|
| Entrez Id: |
284346 |
| Gene Symbol: |
ZNF575 |
ZNF575
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
|
14732903 |
2004 |