Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940289
rs28940289
ETHE1
0.810 GeneticVariation BEFREE Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre. 25198162

2014
dbSNP: rs28940289
rs28940289
ETHE1
A 0.810 CausalMutation CLINVAR To address this issue and to elicit how ETHE1 dysfunction results in EE, we have investigated two such pathological mutations, ETHE1-p.Arg163Gln and p.Arg163Trp. 25198162

2014
dbSNP: rs28940289
rs28940289
ETHE1
0.810 GeneticVariation UNIPROT Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism. 23144459

2012
dbSNP: rs28940289
rs28940289
ETHE1
0.810 GeneticVariation UNIPROT Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. 18593870

2008
dbSNP: rs28940289
rs28940289
ETHE1
A 0.810 CausalMutation CLINVAR A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. 16828325

2006
dbSNP: rs28940289
rs28940289
ETHE1
A 0.810 CausalMutation CLINVAR Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. 14732903

2004
dbSNP: rs28940289
rs28940289
ETHE1
0.810 GeneticVariation UNIPROT Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. 14732903

2004
dbSNP: rs28940289
rs28940289
ETHE1
C 0.810 CausalMutation CLINVAR