Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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
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 ETHE1 mutations are specific to ethylmalonic encephalopathy. 16183799 2006
Entrez Id: 284346
Gene Symbol: ZNF575
ZNF575 		0.100 CausalMutation disease CLINVAR ETHE1 mutations are specific to ethylmalonic encephalopathy. 16183799 2006
Entrez Id: 4582
Gene Symbol: MUC1
MUC1 		0.010 Biomarker disease BEFREE To investigate to what extent ETHE1 is responsible for EE, we analysed this gene in 29 patients with typical EE and in 11 patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria (non-EE EMA). 16183799 2006
Entrez Id: 2108
Gene Symbol: ETFA
ETFA 		0.010 Biomarker disease BEFREE To investigate to what extent ETHE1 is responsible for EE, we analysed this gene in 29 patients with typical EE and in 11 patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria (non-EE EMA). 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 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 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: 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: 10631
Gene Symbol: POSTN
POSTN 		0.010 AlteredExpression disease BEFREE Periostin was indeed markedly overexpressed (35-fold) in the esophagus of EE patients, particularly in the papillae, compared with control individuals. 19079190 2008
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 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