ECHS1, enoyl-CoA hydratase, short chain 1, 1892

N. diseases: 93; N. variants: 26
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307550
rs1085307550
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs1085307550
rs1085307550
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation UNIPROT ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. 25393721 2015
dbSNP: rs1085307550
rs1085307550
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation UNIPROT Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion. 26251176 2015
dbSNP: rs1085307550
rs1085307550
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation UNIPROT ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 25125611 2014
dbSNP: rs1085307550
rs1085307550
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation UNIPROT Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. 26000322 2015
dbSNP: rs1085307550
rs1085307550
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation UNIPROT Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis. 27221955 2016
dbSNP: rs1318391499
rs1318391499
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1426014295
rs1426014295
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs1426014295
rs1426014295
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation UNIPROT Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion. 26251176 2015
dbSNP: rs1426014295
rs1426014295
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation UNIPROT Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. 26000322 2015
dbSNP: rs1426014295
rs1426014295
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation UNIPROT ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. 25393721 2015
dbSNP: rs1426014295
rs1426014295
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation UNIPROT Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis. 27221955 2016
dbSNP: rs1426014295
rs1426014295
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation UNIPROT ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 25125611 2014
dbSNP: rs150321966
rs150321966
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs150321966
rs150321966
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554885530
rs1554885530
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		GTT 0.700 CausalMutation CLINVAR
dbSNP: rs1554886769
rs1554886769
Entrez Id: 1892;100500911
Gene Symbol: ECHS1;MIR3944
ECHS1;MIR3944
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		G 0.700 CausalMutation CLINVAR
dbSNP: rs201865375
rs201865375
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.800 GeneticVariation UNIPROT Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis. 27221955 2016
dbSNP: rs201865375
rs201865375
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.800 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs201865375
rs201865375
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.800 GeneticVariation UNIPROT ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 25125611 2014
dbSNP: rs201865375
rs201865375
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		C 0.800 CausalMutation CLINVAR
dbSNP: rs201865375
rs201865375
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.800 GeneticVariation UNIPROT Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion. 26251176 2015
dbSNP: rs201865375
rs201865375
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.800 GeneticVariation UNIPROT Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. 26000322 2015
dbSNP: rs201865375
rs201865375
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.800 GeneticVariation UNIPROT ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. 25393721 2015
dbSNP: rs371063211
rs371063211
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C4225391
Disease:
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation UNIPROT